Guidelines for Counseling Young Adults with Sickle Cell Trait VERLE HEADINGS, MD, PhD JON FIELDING, MD, MPH
Counseling for sickle cell is a process of basic education or giving of information. It ought not to consist of giving advice. Two key elements of counseling are presentation of the biological aspects of sickle cell trait and sickle cell anemia, and dealing with misconceptions and potential psychosocial complications. The guidelines presented here define basic ingredients of counseling as applied to sickle cell trait.
Introduction Any health program which includes screening essentially healthy individuals for a condition which has virtually no effect on their body must explain the need for such a Dr. Headings is a geneticist and Assistant Professor of Pediatrics, Medical Genetics Unit, Department of Pediatrics, Howard University College of Medicine, Washington, DC 20001. Dr. Fielding is Principal Medical Services Officer, Office of the Director, Job Corps, U.S. Department of Labor, Washington DC, and Special Assistant, Health Services and Mental Health Administration, Rockville, Maryland. Send reprint requests to Dr. V. Headings. This paper does not necessarily reflect the views of Job Corps, U.S. Department of Labor, or the Health Services and Mental Health Administration. Preparation was supported by Special Project Grant 12HS: 414, U.S. Children's Bureau, and a grant from the John A. Hartford Foundation to the Department of Pediatrics, Howard University College of Medicine. The questionnaire for sickle cell counselors is a modification of one developed in the Medical Genetics Unit at Howard University College of Medicine. This article was submitted for publication in October, 1972.
test. Since the major value of screening for sickle cell trait is to be able to inform individuals about potential risks to their children, the program's validity is dependent upon an effective mechanism to transmit this information. Thus, effective counseling is the crux of any program which involves testing for the sickle gene. A related prime consideration is the age group for which sickle trait screening and counseling is to be recommended. Various sickle cell testing programs encourage the whole family to be tested irrespective of age. Since a major objective of testing is to inform potential parents about potential risks to future children, testing and counseling programs should logically be oriented primarily to young adults before they begin reproduction. We believe that testing programs directed toward young children, as in elementary school programs, or toward persons in postreproductive ages are of limited benefit and in fact invite certain counseling problems, some of which we will mention later. Counseling for sickle cell is a process of basic education or giving information. It ought not to consist of giving advice. One major task of the sickle cell counselor is to be SICKLE CELL TRAIT COUNSEL
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certain that the counselee understands what sickle cell trait is and what are its implications for his family. The other major task of the sickle cell counselor is to help individuals work through the psychosocial impact of being informed that they have a genetic condition. Counseling is most efficient when other educational techniques are employed concurrently. These may include pamphlets, brochures, cassettes, films, and other media. It is very desirable that sickle cell counselors give their counselees some concise written material on sickle cell trait and sickle cell anemia that they can take home and study at their leisure. People with a number of different backgrounds may be good sickle cell counselors. Although it is helpful to be in the health field and to possess some knowledge of Mendelian genetic principles, many individuals without such backgrounds can function very well as sickle cell counselors with the guidance of a medical geneticist. Indispensable characteristics are (1) sensitivity to the general problems of young adults, especially young adults from minority groups, (2) understanding of the impact that becoming aware of carrying a genetic condition can have on an individual, (3) a commitment to a nondirective counseling approach, (4) ability to assimilate the necessary factual material about sickle cell trait and anemia, including principles of genetic transmission. These guidelines assume that the reader has a general familiarity with the biological, clinical, and genetic aspects of sickle cell anemia and trait as well as other common hemoglobin variants. Two means of assessing the strengths and weaknesses of the potential counselor are recommended. An objective estimate of factual knowledge can be obtained from performance on a questionnaire designed to cover basic information on the biological, clinical, and genetic aspects of sickle cell trait and anemia. An example of such a questionnaire used in the Job Corps sickle cell program is shown in Appendix A. The sensitivity and actual skill of the potential counselor can be evaluated only by observing him in a simulated or actual counseling session. It is important that the counselor who is not a geneticist be able to recognize those more difficult cases for which he may not be prepared and to seek consultation. Examples of such cases might be the genetic and clinical consequences of two hemoglobin variants in the same pedigree, the combined effect of the genes for thalassemia and sickle hemoglobin, and particularly acute social or emotional problems which the counselee occasionally experiences in relation to knowledge about sickle cell. There have been a number of screening programs for sickle hemoglobin which have not had strong counseling components. Lack of counseling can lead to unnecessary anxiety, perpetuation of misconceptions, and an impaired self-image. To best ensure a close linkage between testing and counseling, and to place the entire problem of sickle cell anemia and trait in proper perspective vis-a-vis other health problems, sickle cell programs should be developed within the context of ongoing health services delivery. Independent sickle cell programs further fragment the delivery of health services and distort the overall importance of sickle cell as a health problem. 820
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Counseling Objectives "What is it?" "Why do I have it?" "Can I get rid of it?" "Is there any risk to me?" "Is there any risk to my children?" These are questions of general concern that arise when any person is informed that he or she has a genetic condition. Counseling about a genetically transmitted condition consists of providing accurate information that responds not only to the preceding questions but to all questions, both verbalized and implied, that relate to the effect of that condition on the individual's physical and emotional well-being and his present and potential family. The three broad objectives which are outlined below provide a basic perspective of sickle cell counseling. * To effectively communicate accurate information about sickle cell anemia and trait so that the counselee has the opportunity to make informed decisions about these conditions as they affect his life and the lives of his family; to support the individual in the decisions which he makes based on accurate information; * To correct misconceptions about sickle cell anemia and trait; * To afford ample opportunity for airing of the counselee's desires, expectations, concerns, and anxieties related to sickle cell trait; to deal with the potential threats to self-image that develop as a result of receiving relevant information. The following information is designed to aid the counselor to respond most effectively to the questions and emotional needs of the counselee and his family. The discussion will be subdivided according to a general format of counseling with the recognition that in any individual case certain topics may require more or less attention than given here. The components of counseling will not always occur in the sequence in which they are discussed here. With minor revisions this information is applicable to counseling sickle cell anemia patients and individuals with hemoglobin C as well as other hemoglobins.
Some Keys to Successful Counseling There are a number of principles in counseling which help to assure effective communication: * Be prompt for all counseling appointments * Maintain an atmosphere of privacy * Make the counselee aware of the strict confidentiality of what transpires during the counseling session * Allow adequate time * Be straightforward * Individualize and personalize your approach * Use terms that are easy to understand * Provide facts, not personal opinions * Be nondirective but be supportive * Be alert to both verbal and nonverbal cues * Try to anticipate the counselee's concerns
Essential Topics for the Initial Counseling Session During the initial counseling session for individuals with sickle cell trait, the following topics should be covered as a minimum: * What the counselee understands about sickle cell anemia and sickle cell trait; * Basic information about sickle cell trait and sickle cell anemia; how they differ from each other; * How a person gets sickle cell; * The geographic and racial distribution of sickle cell trait and anemia contrasted with other genetic
conditions; * The spread of the sickle cell gene from a variety of countries to the Americas; * The protective role of the trait against falciparum
malaria; * What happens in individuals with sickle cell anemia when red blood cells become sickled; * The types of medical problems associated with sickle cell anemia; the absence of medical problems (except in rare instances) in individuals with sickle cell trait; * The varied effects of sickle cell anemia on life span contrasted with the normal life span of individuals with sickle cell trait; * Basic genetic law governing the transmission of the sickle gene and the application to the individual's situation; * The importance of each person with sickle cell trait making individual decisions concerning reproduction and choice of mate; * The alternatives for preventing the occurrence of sickle cell anemia. The counselor should explicitly offer opportunities for questions about every topic and allow for verbalization of concerns and anxieties. Some means of assessing the adequacy of communication is an essential component of counseling. One such means is to administer a brief sickle cell questionnaire, which covers the most basic information, near the conclusion of the counseling session and to note and correct any misconceptions (Appendix B).
of significant deficiencies in knowledge. The counselor may need to ask specific questions in order to improve his or her understanding of what the counselee is saying. Considerable interest in sickle cell anemia and sickle cell trait has led to pressure for the rapid development of programs to deal with these conditions. Unfortunately, a number of groups with a general interest in education about sickle cell anemia and trait have disseminated misinformation and perpetuated misconceptions. Counselees may be harboring misconceptions which include: * Sickle cell trait causes many medical problems and individuals frequently die from it; * Sickle cell trait is an alternative name for sickle cell anemia; * Many people die from sickle cell trait; * Individuals with sickle cell trait are unable to produce healthy children; * Sickle cell anemia and trait are venereally transmitted from one adult to another; * Sickle cell anemia and trait are contagious diseases like measles; * Sickle cell anemia and trait are given to people as retributions for past sins; * The presence of sickle cell anemia or trait in some individuals indicates that they have low moral values; * Sickle cell anemia and trait do not exist; they are fictions which the white power structure has ascribed to blacks to humiliate them and keep them
subjugated; * There is a relationship between the sickle cell gene and skin pigmentation; * There is a cure for sickle cell anemia. These and other misconceptions have led to unnecessary anxiety in individuals who find that they have sickle cell trait but who have not received effective counseling. Some individuals have taken inappropriate and unfortunate actions based on their misconceptions. For example, some individuals have quit their jobs; others have decided not to have children without even knowing whether or not their spouse has sickle trait. Communities have ostracized families known to have the sickle gene to avoid catching it. Correction of these and other misconceptions is a highly significant part of the initial counseling session.
Encourage the Counselee to Describe What He/She Understands about Sickle Cell Trait and Sickle Cell Anemia
Discuss Origin and Biology of Sickle Cell Anemia
Experienced genetic counselors frequently observe that a careful description of the clinical and genetic facts about an inherited condition may be grossly distorted in the mind of the counselee. Effective counseling must dispel misconceptions and permit the counselee to substitute correct information. A valuable starting point in a counseling session is to ask the counselee to describe his understanding of the condition in question. This will provide (1) insight into the kinds of terminology which have meaning for him, (2) identification of misconceptions, and (3) identification
A significant question confronting many patients with any inherited condition including sickle cell trait or anemia is "Why do I have it?" or "How did I get it?" Ignorance about the cause of an inherited condition promotes anxiety and the person will often deal with this by developing his own explanation, which frequently is erroneous. For example, since in the United States sickle cell anemia and trait occur most frequently among black Americans and Spanish-Americans, some individuals may erroneously conclude that there is a relationship between anemia or trait SICKLE CELL TRAIT COUNSELING
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and pigmentation. In order to effectively answer the questions "Why do I have it?" or "How did I get it?" and to prevent erroneous rationalization, the counselor should explain the origin of sickle cell trait and anemia and the fact that they occur in several different populations. It is sometimes helpful to point out that there are a number of other inherited conditions which occur in a variety of populations or countries. This encourages the counselee to realize that hereditary conditions are not limited to his community or race. The following discussion is intended to serve as background information for the counselor. The terminology and detail which the counselor uses in communicating this will necessarily be individualized according to the counselee's interest and readiness to understand. All individuals carry a number of genes which, if combined with a similar gene from their mate, can produce diseases in the child resulting from this union. That is, we all are "carriers" for a number of serious diseases. Many of these diseases are more frequent in individuals whose ancestors came from a particular geographic area of the world or belonged to a specific population group. Americans who trace their ancestry to one of the areas listed below have a relatively greater chance of carrying the gene for the corresponding disease.
Condition 1. Cystic fibrosis 2. Phenylketonuria 3. Hemoglobin S disease (sickle cell anemia) 4. Hemoglobin C disease 5. Cooley's anemia 6. Tay-Sachs disease
Geographic Area of Origin Northern Europe Northern Europe Central Africa, Mediterranean West Africa Mediterranean, Far East Northern Europe
There are two variants of hemoglobin which appear on this list, hemoglobins "S" and "C." Of the more than 150 different hemoglobin variants that have been identified, only these two occur with a frequency in the United States for which it is economically reasonable to offer large scale hemoglobin testing. Sickle cell trait is estimated to occur in 8 per cent of black Americans and in 1/2 to 3 per cent of Spanish-speaking Americans, depending on the country of origin. Some other inherited conditions which are visible and may be known to the counselee are cleft lip and polydactyly (excessive number of fingers and toes). Cleft lip occurs less frequently in black persons than in white persons while for polydactyly the reverse situation occurs. In most instances we are unable to explain an increased frequency of an unusual gene in a particular population group. In the case of the gene for sickle hemoglobin, however, there is substantial evidence concerning the factor which causes its relatively high frequency. For centuries malaria has been widespread in the geographic areas where the sickle gene is found in relatively high frequency, namely, Central Africa and areas of Italy, Greece, Turkey, Southeast Asia, and India. A variety of studies support the conclusion that the carrier for hemoglobin S (i.e., the 822 AJPH AUGUST, 1975, Vol. 65, No. 8
individual with sickle cell trait) is less susceptible to the lethal effects of malaria in childhood than are persons possessing only hemoglobin A. (There is no evidence, however, that children with sickle cell anemia fare better than others against malaria.) Having sickle cell trait is, therefore beneficial to persons in terms of protection against malaria. In countries where malaria occurs infrequently, such benefit obviously is no longer present. It should be pointed out, therefore, that the presence of the sickle cell gene and dark skin in the same geographic area is coincidental. The sickle gene's presence in individuals whose ancestry can be traced to parts of Africa is unrelated to the skin pigmentation found in individuals from those African areas. Deficiencies in a counselee's knowledge can in part be determined from his questions. It is also reasonable to assume that the counselee does not usually possess a working knowledge of hemoglobin, its function, and why hemoglobin S in the homozygous state impairs the circulation of red cells. A brief description of these entities and functions in lay terms early in a counseling session can help to remove a sense of foreboding mystery about the cause of sickle cell anemia. A frequently adequate description goes as follows: "When we breathe we take in oxygen, which the body needs to survive. This oxygen is carried to the various parts of the body by the red substance in blood, known as hemoglobin. The hemoglobin is contained in the red blood cells, which normally are round in shape. In some persons with S hemoglobin inherited from both parents (sickle cell anemia) the hemoglobin under certain conditions changes shape, causing the red blood cells to become irregular in shape, sometimes like a sickle.* When this occurs the cells become less flexible and do not easily pass through the small vessels of the body. The sickled cells form plugs in these small blood vessels and stop blood flow. Organs supplied by these vessels are thereby deprived of the necessary oxygen, causing pain and damage."
It is important that the counselor establish some common understanding of a gene, how genes relate to hemoglobin S, and how they are transmitted from parents to child. This frequently can be dealt with in the following manner: "Genes are the chemical structures in the cells of our body which determine many things such as
height, color of skin and hair, weight, and the red color of the blood. Genes are passed from parent to child at the time that a man's sperm joins with a woman's egg. Occasionally, a gene undergoes a change in such a way that some part of the body does not function properly. Many generations ago, a gene which determines the hemoglobin underwent a change which causes it to produce a different kind of hemoglobin, called hemoglobin S. This is the hemoglobin found in individuals with sickle cell anemia and trait. In order to have sickle cell anemia a person must receive one such gene from each parent. If the child receives such a gene from only one parent he has what is called sickle cell trait, without anemia." *Many urban dwellers do not know what its shape.
a
sickle is
or
Allow Opportunity for the Counselee to Voice Anxieties Anxieties about hereditary conditions cluster around the following concerns: 1. In some communities a social stigma is unjustly associated with certain inherited disorders, leading to social isolation, pity, and a decrease in the opportunities for marriage. The person who has sickle cell trait may need to be reassured that this condition should not interfere with his job, prevent him from finding a marriage partner, increase his insurance risk, or limit where he lives. The wise counselor will refrain from expressing attitudes or using terminology which would tend to imply that either sickle cell anemia or the trait are socially undesirable conditions. 2. Realizing that black Americans and Spanish-speaking Americans, the groups in North America who are primarily affected by sickle cell, are minority groups who are rightfully proud of their ethnic identities, the counselor should be aware that any program which implies family planning may be interpreted as promoting genocide. 3. The self-image of the individual who is told that he has a hereditary condition frequently suffers as a result of this information. The counselor should be sensitive to choice of alternative adjectives, as, for example, referring to sickle hemoglobin as a changed hemoglobin rather than an abnormal hemoglobin. The individual may easily extrapolate from "abnormal hemoglobin" to a concept of "abnormal self" when attempting to assimilate the concept of a hereditary condition which affects him. When a person comes to believe that he or she is an abnormal or set apart person, one of the major aspects of self-image, sexuality, is frequently threatened. In the case of a married couple, misconceptions about reproductive ability can place unusual strains on the marriage relationship. An important experience during adolescence and early adulthood is the development of new sexual roles. Hearing that he has a genetic condition such as sickle cell trait may interfere with an individual's development of normal adult sexuality. A young person may feel threatened by this information and ask such questions as "Will it prevent me from having children?" If a young counselee hesitates to verbalize these questions, the counselor should consider taking the initiative in discussing them in order to avoid unnecessary apprehensions. The counselee should be assured that the trait does not interfere with sex or prevent reproduction.
Discuss Prognosis of Sickle Cell Anemia One of the criteria which may enter prominently into the "decision-making" process for parents at risk of having a child with sickle cell anemia is the prognosis for the child. The prognosis of sickle cell anemia is frequently stated in terms of a set of dire clinical disabilities and shortened life. Since the manifestations of sickle cell anemia vary greatly among affected individuals, this is not an accurate representation. Some individuals with sickle cell anemia die
in early childhood, while some live to middle age, and a few live a normal life span. Some have very frequent crises; others have crises only very rarely. Some individuals with sickle cell anemia live very restricted lives but others are able to function at normal or near normal capacities on the job and in family life. The most frequent complications should be explained as well as the fact that current treatment is primarily symptomatic, with no cure currently available. However, counselees should also be aware that considerable research is currently going on. Among the objectives of this research are the control or prevention of sickle cell crises and intrauterine diagnosis in fetuses who would be bom with sickle cell anemia. It is a disservice to the counselee to prematurely raise expectations about specific treatment or on the contrary to disparage prospects of developing effective treatment.
Discuss the Risks for Having Children with Sickle Cell Anemia and Sickle Cell Trait Given the widespread awareness of sickle cell anemia generated through the various communications media, a significant number of individuals who discover that they have sickle cell trait are concerned about the risk for sickle cell anemia for their children. Others on consulting the counselor for the first time will possess essentially no prior knowledge of the hereditary nature of this condition. If the counselor can determine the counselee's knowledge on this question, his discussion of genetic risk can be tailored to the situation. In order to understand genetic risk, the counselee must comprehend the principle of probability or chance events. In most cases this concept is best conveyed by using examples in which this principle operates and with which the counselee is likely to be familiar, such as the odds of heads or tails when flipping a coin. The individual who has the trait should clearly understand that this principle applies to genes which make hemoglobin and that all genes occur in pairs or as duplicate sets. Someone with the trait passes on to the child the gene for either hemoglobin A (usual hemoglobin) or S (sickle hemoglobin) but not both. Each gene has a 50 per cent chance of being transmitted to any given child. It is usually helpful to diagram the concepts of gene pairs, the transmission of only one member of each pair from parent to child, and the risk that parents of a known hemoglobin type would have a child with sickle cell anemia (Figure 1). The chance that a given child will receive the gene for S from one carrier parent is always 50 per cent and the chance that he will receive two genes for S from two carrier parents is always 25 per cent. These chances are not influenced by the outcome in any previous child by the same carrier parents. Finally, the counselee must understand that in order for an individual to have sickle cell anemia, he must possess two genes for hemoglobin S, one from each parent. Hemoglobin C is another inherited type of hemoglobin, SICKLE CELL TRAIT COUNSELING
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the possibility of his children having sickle cell anemia. At this point in time this man faces three alternative risks, depending on his choice of mate. One appropriate way to respond to his anxiety is to explain the three alternative situations: (1) The frequency of individuals with trait in the black American population is estimated to be about 8 per cent. Therefore, if he selects a spouse from this population, without being aware whether she has trait, the chance that she would have trait and that any given child produced would have sickle cell anemia is 2 in 100 (1 x 0.08 x 0.25). (2) If his spouse has been tested and found to have trait then the risk for each child having sickle cell anemia is 25 per cent. (3) If his prospective spouse was tested and found to possess no varient hemoglobin the risk of sickle cell anemia among their children is zero except for the rare occurrence of a recurrent mutation. Outlining risks in this manner offers this man the knowledge that he has the power to exercise a choice concerning risk of sickle cell anemia among his children.
found in much lower frequency in this country than hemoglobin S. Approximately 2 per cent of black Americans have the C trait which, like the S trait, causes no problems in those that have it. Hemoglobin C can occur in combination with hemoglobin S (SC). The latter combination produces hemoglobin S-C disease with clinical symptoms similar to sickle cell anemia but often with lesser severity. The risk of hemoglobin S-C disease in a child of two carrier parents is diagrammed in Figure 2. The counselor should anticipate the following types of situations or questions concerning genetic risks: Example: A young woman has been told that her first child has sickle cell anemia. Neither parent of the child has this condition. Her question to the counselor is, "What is the chance that my next child will have anemia?" Since the child with sickle cell anemia received two genes for hemoglobin S, both parents must be carriers. For each subsequent pregnancy by these same two parents there is still a risk of 1 in 4 (25 per cent) for sickle cell anemia (1/2 x 1/2 = 1/4). Example: During a screening program an 18-yearold unmarried black man learned that he has sickle cell trait. On the basis of preliminary information about the trait, he understands that this is an inherited condition and somehow related to sickle cell anemia. He is experiencing considerable anxiety over
The risk for recurrence of trait is not likely to be of major concern to most prospective parents because of the relatively insignificant medical problems associated with it. The counselor should make certain, however, that the counselee appreciates the chances of trait recurrence so that Mother (sickle cell trait)
Father (sickle cell trait)
AS
s '11.
.A
-11,
AS
AS
(sickle cell anemia)
(sickle cell trait)
(all usual hemoglobin)
Children
25%
506
25%
Ss
FIGURE 1 Risk of sickle cell anemia. AA = all usual hemoglobin; AS = sickle cell trait; SS = sickle cell anemia; A = the gene for hemoglobin A; S = the gene for hemoglobin S.
MoreArLter
Father
Children
25%
25%
25%
25%
(all usual hemoglobin)
("C" trait)
(sickle cell trait)
(S-C disease)
FIGURE 2 Risk of hemoglobin S-C disease.
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they will be alerted to the potential importance of having their children tested. Among the children of two parents with trait, or of a set of parents where one parent has trait and the other neither trait nor anemia, each individual has a 50 per cent chance of possessing trait.
but want to minimize the number of times that they will take the 25 per cent chance. 4. Two prospective parents with trait may adopt all of their children. 5. Two prospective parents with trait may choose to remain childless.
Stress the Right for Individual Decision-Making
Explicitly Offer Opportunities for Questions
There are many factors affecting any counselee's decision-making process. Some of these are rational and relate directly to factual information provided by the counselor. Others are emotional, based on the individual's background, his self-image, the opinions of his family and/or close friends, etc. In any event, it is important that the counselor at all times support the counselee's right to self-determination concerning decisions about present and future life situations. To be able to make decisions it is essential that counselees be given complete and factual information by the counselor. It should be recognized that many of the counselees are just entering adulthood and simultaneously facing many changes in how they relate to others and to the outside world. As they enter adulthood they are expected to make responsible decisions in many areas. In addition to the difficulties of assuming adult responsibilities, counselees are often faced with discrimination due to their ethnic origins, or with a difficult social environment in which they are expected to fail. It should, therefore, not be surprising that when they are faced with a condition which threatens self-image and perception of sexuality, many concerns seemingly unrelated to sickle cell may emerge.
This is particularly important for the counselee who is reticent. While it is not to be expected that he can identify all of his questions during the initial counseling session, it is necessary that two-way communication be established. Genetic counsel perceived only as a set of facts is of less value than when the counselee verbally tests it against his prior knowledge and experience.
Test the Counselee's Understanding of Key Concepts The counselor cannot, of course, predict whether the counselee in later years will make an accurate assessment of the information he has received. He ought, however, to satisfy himself that the counselee has accurately perceived the major items of information during or soon after the counseling session. One aid in determining this is to administer a brief questionnaire to the counselee near the conclusion of the counseling session (Appendix B). It also identifies those areas where more counseling may be needed.
Offer Follow-up Counseling Explain the Options for Preventing the Occurrence of Sickle Cell Anemia If a young adult with sickle cell trait expresses the desire to prevent sickle cell anemia in his children, there are basically five options available, currently. It should not be assumed that all options are equally realistic or desirable in any given instance, or that they are universally available. 1. He/she may engage in reproduction without regard for any or all risks of the occurrence of sickle cell anemia. 2. He/she may select a spouse who has been proven not to possess "'S" or "C" trait.* 3. Two prospective parents who possess the trait may initiate their family (one child) by mating and complete it by adopting additional children. This first child, of course, has the usual 25 per cent chance of having sickle cell anemia. The rationale for this option is that prospective parents may feel strongly that they want a biological child * This does not prevent the possibility that a spouse without S or C trait may be a carrier for thalassemia. Among the children of a set of parents where one has sickle trait and the other is a carrier for thalassemia there is a 25 per cent chance for occurrence of sickle cell-thalassemia, a disease with some similarities to sickle cell anemia.
On occasion, the counselee will discover after leaving session that he is hopelessly confused about counseling the the information which was discussed. Also, with opportunity for more leisurely reflection, unanswered questions will become apparent. Through discussion with parents, peers, and other trusted friends, it is likely that additional questions will arise. In each case, it is crucial that should the counselee at any time find himself in a state of uncertainty or anxiety, he can be assured of the counselor's continued availal?ility to him. In some instances at least one follow-up counseling session should be arranged to deal with potential questions or misunderstandings. The counselor needs to be sensitive to the potential needs of other members of the counselee's family. In those instances where the counselee has sibs at risk for sickle cell trait it is appropriate that the counselor assist in making testing and counseling available to those individuals desiring it.
Problems Encountered in the Counseling Situation Several key problems can complicate the counseling process and if not approached with sensitivity and care may SICKLE CELL TRAIT COUNSELING
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lead to negative consequences for the counselee. Various factors in the family context of the counselee can determine his receptivity to information about sickle cell. Instances of teasing by sibs has been reported. The manner in which sickle cell is presented on television, radio, and in fund raising advertisements frequently is insensitive to feelings and needs of individual carriers. This increases the likelihood that a given carrier has a distorted concept of sickle cell as it applies to him. This situation, coupled with ridicule or bantering from sibs or peers, we believe can be a potent deterrent to the young adult's receptivity to further discussion about his own situation. Whenever such a problem is detected the empathy of the counselor can be particularly instrumental in relieving the counselee's anxiety. No single approach can be universally followed; however, encouraging the counselee to verbalize his situation in some detail is usually valuable. Other factors growing out of the family context may be important to the counseling situation: family size, economic status, adult role expectations, and quality of educational opportunity. The actual contribution of these factors has not been ascertained and informed efforts to adapt counseling to these factors obviously must await the findings of research in the area of genetic counseling. A situation of major concern is the occasional young adult with sickle trait who upon arrival in the counselor's office is relatively unresponsive or even seemingly misleading in the few responses he/she does make to questions. The frequently stated reason for seeking counsel is that someone in the organization or laboratory where their sickle test was performed instructed them to do so. If the counselor finds it impossible to establish meaningful two-way communication he will find it difficult to assess how accurately the counselee perceives the information which is discussed. It is important that the counselee does not feel threatened by this situation and that he does not display threatening attitudes to the counselee. Supporting techniques for conveying information in an interesting manner in such situations are illustrative slides, film loops, and other visual illustration, as well as a brochure which the counselee may study at leisure before or after the counseling session. Another problem situation occurs if neither putative biological parent of a young adult with sickle trait is found to have sickle trait or anemia. The most frequent cause of such a finding is nonpaternity since it occurs with much greater frequency than the estimated frequency of fresh mutation per gene locus in man, which is on the order of 10-5 to 10-6. If it appears likely that the discrepant sickle cell test results will expose nonpaternity to either spouse or to their child the counselor may be advised in some instances to emphasize the possibility of the less probable interpretation, i.e., a fresh mutation, when discussing the test results. When the counselor is in doubt as to the likely effect of the information about nonpatemity or how to deal with such information, it would be wise to seek the assistance of a psychologist, marriage counselor, or the counselee's minister. The potential threat to family relationships which is 826 AJPH AUGUST, 1975, Vol. 65, No. 8
posed by exposure of nonpaternity could be avoided in some instances if sickle cell testing and counseling were primarily focused on young adults. The parents of young adults have frequently already completed their reproduction and knowledge about their carrier status is no longer of practical significance for them. Whenever the counselor has such an option it is wise not to encourage that the young adult's parents be tested for sickle cell trait.
Conclusion The guidelines presented here touch on those aspects of counseling which we at present consider to be of major significance. Clearly, the process is more complex than giving the counselee a probability for the occurrence of sickle cell anemia among his/her children. Unfortunately, this simplistic concept of counseling is too frequently followed. We would stress, however, that the counseling format which is most valuable for a particular counselee will only become apparent as careful research on the counseling process is carried out. Follow-up evaluation, dealing with such items as accuracy with which information is transmitted during counseling, emotional responses to counseling, long term utilization of counsel, and factors which influence utilization of counsel are an essential part of a sickle cell counseling program. The nature of such follow-up study will be tailored to the type of population being served and available resources. Systematic follow-up observation on response to medical care is an established vehicle for arriving at improvement in medical care in most areas of medical practice. The area of sickle cell counseling, and counseling for inherited conditions in general, should be no exception. ACKNOWLEDGMENTS The following individuals contributed helpful critique during the development of these guidelines: Rae Bennett, RN, Job Corp Health Consultant; Yvette Francis, MD, Jamaica Hospital, Queens, New York; Robert Murray, MD, Howard University; Donald Rucknagel, MD, PhD, University of Michigan; Aaron Smith, MSW, MPH, Stanford University; George Tolbert, MD, Howard University; Charles Whitten, MD, Wayne State University. The authors, however, accept full responsibility for the form in which the guidelines are here presented.
APPENDIX A QUESTIONS FOR SICKLE CELL COUNSELORS Please give the best answer to each question by placing a circle around the letter beside it. 1. What is the chance of having sickle cell anemia if neither of your parents had the sickle cell gene? a. 50% b. 25% c. 0% d. 100% 2. Sickle cell anemia occurs among people from different geographical areas. Select the incorrect answer. a. Caribbean
b. c. d.
Mexico Africa Japan
3. The sickle cell gene affects a. the blood type b. the hemoglobin in the red blood cells c. the shape of the blood vessels d. the blood pressure 4. In a person with sickle cell anemia, there are sickle cells that can be observed a. at all times b. occasionally c. only when there is too much oxygen circulating in the blood d. only when there is too little oxygen circulating in the blood 5. Having the sickle cell trait is like having sickle cell anemia a. True b. False c. Don't know 6. If you have one sickle cell gene a. all of your children will get the gene b. none of your children will get the gene c. each child has a 50:50 chance of receiving the gene d. you can't have any children because of the gene 7. Malaria causes sickle cell anemia a. True b. False c. Don't know 8. When a person has a sickle cell anemia crisis a. he can't talk b. he usually is in severe pain c. he can't see d. he usually has convulsions 9. Only females can have sickle cell anemia a. True b. False c. Don't know 10. One out of about every 12 blacks has the sickle cell trait a. True b. False c. Don't know 11. Hemoglobin is a. the substance that makes the blood red b. the substance that makes the skin yellow c. the substance that makes the skin brown d. the major component of fingernails 12. Having sickle cell trait does not usually affect your health a. True b. False c. Don't know 13. The sickle red blood cell a. passes through small blood vessels easily b. is carrying more oxygen c. is unable to pass through small blood vessels easily d. is destroyed by the body more slowly than the normal red blood cell 14. If one parent has sickle cell anemia and the other parent does not have either sickle cell trait or anemia, the children would have what chance of having sickle cell trait? a. 25% b. 50% c. 0% d. 100%
15. Having sickle cell trait is an advantage in areas where there is much malaria a. True b. False c. Don't know 16. If both parents have sickle cell trait, what is the chance that their first child would have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 17. If both parents have sickle cell trait, what is the chance that their third child would have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 18. If one parent has sickle cell trait and the other does not have either sickle cell trait or anemia, what proportion of their children would likely have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 19. All races and nationalities have some genetic problems a. True b. F'alse c. Don't know
APPENDIX B QUESTIONS FOR COUNSELEES 1. Sickle cell trait is a disease a. True b. False c. Don't know 2. Sickle cell trait and sickle cell anemia are found in both men and women. a. True b. False c. Don't know 3. People of all races and nationalities have genetic
4.
5.
6.
7.
problems. a. True b. False c. Don't know How do people get sickle cell? a. They are born with it. b. They catch it through sexual contact. c. They catch it like measles. If two people with sickle cell trait have children, the chance of each child having sickle cell anemia is: a. One in two (50%) b. One in three (33%) c. One in four (25%) Sickle cell trait helps to protect against the effects of malaria. a. True b. False c. Don't know Sickle cell trait is much more common than sickle cell anemia. a. True b. False c. Don't know
SICKLE CELL TRAIT COUNSELING
827
Counseling for sickle cell is a process of basic education or giving of information. It ought not to consist of giving advice. Two key elements of counseling are presentation of the biological aspects of sickle cell trait and sickle cell anemia, and dealing with misconceptions and potential psychosocial complications. The guidelines presented here define basic ingredients of counseling as applied to sickle cell trait.
Introduction Any health program which includes screening essentially healthy individuals for a condition which has virtually no effect on their body must explain the need for such a Dr. Headings is a geneticist and Assistant Professor of Pediatrics, Medical Genetics Unit, Department of Pediatrics, Howard University College of Medicine, Washington, DC 20001. Dr. Fielding is Principal Medical Services Officer, Office of the Director, Job Corps, U.S. Department of Labor, Washington DC, and Special Assistant, Health Services and Mental Health Administration, Rockville, Maryland. Send reprint requests to Dr. V. Headings. This paper does not necessarily reflect the views of Job Corps, U.S. Department of Labor, or the Health Services and Mental Health Administration. Preparation was supported by Special Project Grant 12HS: 414, U.S. Children's Bureau, and a grant from the John A. Hartford Foundation to the Department of Pediatrics, Howard University College of Medicine. The questionnaire for sickle cell counselors is a modification of one developed in the Medical Genetics Unit at Howard University College of Medicine. This article was submitted for publication in October, 1972.
test. Since the major value of screening for sickle cell trait is to be able to inform individuals about potential risks to their children, the program's validity is dependent upon an effective mechanism to transmit this information. Thus, effective counseling is the crux of any program which involves testing for the sickle gene. A related prime consideration is the age group for which sickle trait screening and counseling is to be recommended. Various sickle cell testing programs encourage the whole family to be tested irrespective of age. Since a major objective of testing is to inform potential parents about potential risks to future children, testing and counseling programs should logically be oriented primarily to young adults before they begin reproduction. We believe that testing programs directed toward young children, as in elementary school programs, or toward persons in postreproductive ages are of limited benefit and in fact invite certain counseling problems, some of which we will mention later. Counseling for sickle cell is a process of basic education or giving information. It ought not to consist of giving advice. One major task of the sickle cell counselor is to be SICKLE CELL TRAIT COUNSEL
819
certain that the counselee understands what sickle cell trait is and what are its implications for his family. The other major task of the sickle cell counselor is to help individuals work through the psychosocial impact of being informed that they have a genetic condition. Counseling is most efficient when other educational techniques are employed concurrently. These may include pamphlets, brochures, cassettes, films, and other media. It is very desirable that sickle cell counselors give their counselees some concise written material on sickle cell trait and sickle cell anemia that they can take home and study at their leisure. People with a number of different backgrounds may be good sickle cell counselors. Although it is helpful to be in the health field and to possess some knowledge of Mendelian genetic principles, many individuals without such backgrounds can function very well as sickle cell counselors with the guidance of a medical geneticist. Indispensable characteristics are (1) sensitivity to the general problems of young adults, especially young adults from minority groups, (2) understanding of the impact that becoming aware of carrying a genetic condition can have on an individual, (3) a commitment to a nondirective counseling approach, (4) ability to assimilate the necessary factual material about sickle cell trait and anemia, including principles of genetic transmission. These guidelines assume that the reader has a general familiarity with the biological, clinical, and genetic aspects of sickle cell anemia and trait as well as other common hemoglobin variants. Two means of assessing the strengths and weaknesses of the potential counselor are recommended. An objective estimate of factual knowledge can be obtained from performance on a questionnaire designed to cover basic information on the biological, clinical, and genetic aspects of sickle cell trait and anemia. An example of such a questionnaire used in the Job Corps sickle cell program is shown in Appendix A. The sensitivity and actual skill of the potential counselor can be evaluated only by observing him in a simulated or actual counseling session. It is important that the counselor who is not a geneticist be able to recognize those more difficult cases for which he may not be prepared and to seek consultation. Examples of such cases might be the genetic and clinical consequences of two hemoglobin variants in the same pedigree, the combined effect of the genes for thalassemia and sickle hemoglobin, and particularly acute social or emotional problems which the counselee occasionally experiences in relation to knowledge about sickle cell. There have been a number of screening programs for sickle hemoglobin which have not had strong counseling components. Lack of counseling can lead to unnecessary anxiety, perpetuation of misconceptions, and an impaired self-image. To best ensure a close linkage between testing and counseling, and to place the entire problem of sickle cell anemia and trait in proper perspective vis-a-vis other health problems, sickle cell programs should be developed within the context of ongoing health services delivery. Independent sickle cell programs further fragment the delivery of health services and distort the overall importance of sickle cell as a health problem. 820
AJPH AUGUST, 1975, Vol. 65, No. 8
Counseling Objectives "What is it?" "Why do I have it?" "Can I get rid of it?" "Is there any risk to me?" "Is there any risk to my children?" These are questions of general concern that arise when any person is informed that he or she has a genetic condition. Counseling about a genetically transmitted condition consists of providing accurate information that responds not only to the preceding questions but to all questions, both verbalized and implied, that relate to the effect of that condition on the individual's physical and emotional well-being and his present and potential family. The three broad objectives which are outlined below provide a basic perspective of sickle cell counseling. * To effectively communicate accurate information about sickle cell anemia and trait so that the counselee has the opportunity to make informed decisions about these conditions as they affect his life and the lives of his family; to support the individual in the decisions which he makes based on accurate information; * To correct misconceptions about sickle cell anemia and trait; * To afford ample opportunity for airing of the counselee's desires, expectations, concerns, and anxieties related to sickle cell trait; to deal with the potential threats to self-image that develop as a result of receiving relevant information. The following information is designed to aid the counselor to respond most effectively to the questions and emotional needs of the counselee and his family. The discussion will be subdivided according to a general format of counseling with the recognition that in any individual case certain topics may require more or less attention than given here. The components of counseling will not always occur in the sequence in which they are discussed here. With minor revisions this information is applicable to counseling sickle cell anemia patients and individuals with hemoglobin C as well as other hemoglobins.
Some Keys to Successful Counseling There are a number of principles in counseling which help to assure effective communication: * Be prompt for all counseling appointments * Maintain an atmosphere of privacy * Make the counselee aware of the strict confidentiality of what transpires during the counseling session * Allow adequate time * Be straightforward * Individualize and personalize your approach * Use terms that are easy to understand * Provide facts, not personal opinions * Be nondirective but be supportive * Be alert to both verbal and nonverbal cues * Try to anticipate the counselee's concerns
Essential Topics for the Initial Counseling Session During the initial counseling session for individuals with sickle cell trait, the following topics should be covered as a minimum: * What the counselee understands about sickle cell anemia and sickle cell trait; * Basic information about sickle cell trait and sickle cell anemia; how they differ from each other; * How a person gets sickle cell; * The geographic and racial distribution of sickle cell trait and anemia contrasted with other genetic
conditions; * The spread of the sickle cell gene from a variety of countries to the Americas; * The protective role of the trait against falciparum
malaria; * What happens in individuals with sickle cell anemia when red blood cells become sickled; * The types of medical problems associated with sickle cell anemia; the absence of medical problems (except in rare instances) in individuals with sickle cell trait; * The varied effects of sickle cell anemia on life span contrasted with the normal life span of individuals with sickle cell trait; * Basic genetic law governing the transmission of the sickle gene and the application to the individual's situation; * The importance of each person with sickle cell trait making individual decisions concerning reproduction and choice of mate; * The alternatives for preventing the occurrence of sickle cell anemia. The counselor should explicitly offer opportunities for questions about every topic and allow for verbalization of concerns and anxieties. Some means of assessing the adequacy of communication is an essential component of counseling. One such means is to administer a brief sickle cell questionnaire, which covers the most basic information, near the conclusion of the counseling session and to note and correct any misconceptions (Appendix B).
of significant deficiencies in knowledge. The counselor may need to ask specific questions in order to improve his or her understanding of what the counselee is saying. Considerable interest in sickle cell anemia and sickle cell trait has led to pressure for the rapid development of programs to deal with these conditions. Unfortunately, a number of groups with a general interest in education about sickle cell anemia and trait have disseminated misinformation and perpetuated misconceptions. Counselees may be harboring misconceptions which include: * Sickle cell trait causes many medical problems and individuals frequently die from it; * Sickle cell trait is an alternative name for sickle cell anemia; * Many people die from sickle cell trait; * Individuals with sickle cell trait are unable to produce healthy children; * Sickle cell anemia and trait are venereally transmitted from one adult to another; * Sickle cell anemia and trait are contagious diseases like measles; * Sickle cell anemia and trait are given to people as retributions for past sins; * The presence of sickle cell anemia or trait in some individuals indicates that they have low moral values; * Sickle cell anemia and trait do not exist; they are fictions which the white power structure has ascribed to blacks to humiliate them and keep them
subjugated; * There is a relationship between the sickle cell gene and skin pigmentation; * There is a cure for sickle cell anemia. These and other misconceptions have led to unnecessary anxiety in individuals who find that they have sickle cell trait but who have not received effective counseling. Some individuals have taken inappropriate and unfortunate actions based on their misconceptions. For example, some individuals have quit their jobs; others have decided not to have children without even knowing whether or not their spouse has sickle trait. Communities have ostracized families known to have the sickle gene to avoid catching it. Correction of these and other misconceptions is a highly significant part of the initial counseling session.
Encourage the Counselee to Describe What He/She Understands about Sickle Cell Trait and Sickle Cell Anemia
Discuss Origin and Biology of Sickle Cell Anemia
Experienced genetic counselors frequently observe that a careful description of the clinical and genetic facts about an inherited condition may be grossly distorted in the mind of the counselee. Effective counseling must dispel misconceptions and permit the counselee to substitute correct information. A valuable starting point in a counseling session is to ask the counselee to describe his understanding of the condition in question. This will provide (1) insight into the kinds of terminology which have meaning for him, (2) identification of misconceptions, and (3) identification
A significant question confronting many patients with any inherited condition including sickle cell trait or anemia is "Why do I have it?" or "How did I get it?" Ignorance about the cause of an inherited condition promotes anxiety and the person will often deal with this by developing his own explanation, which frequently is erroneous. For example, since in the United States sickle cell anemia and trait occur most frequently among black Americans and Spanish-Americans, some individuals may erroneously conclude that there is a relationship between anemia or trait SICKLE CELL TRAIT COUNSELING
821
and pigmentation. In order to effectively answer the questions "Why do I have it?" or "How did I get it?" and to prevent erroneous rationalization, the counselor should explain the origin of sickle cell trait and anemia and the fact that they occur in several different populations. It is sometimes helpful to point out that there are a number of other inherited conditions which occur in a variety of populations or countries. This encourages the counselee to realize that hereditary conditions are not limited to his community or race. The following discussion is intended to serve as background information for the counselor. The terminology and detail which the counselor uses in communicating this will necessarily be individualized according to the counselee's interest and readiness to understand. All individuals carry a number of genes which, if combined with a similar gene from their mate, can produce diseases in the child resulting from this union. That is, we all are "carriers" for a number of serious diseases. Many of these diseases are more frequent in individuals whose ancestors came from a particular geographic area of the world or belonged to a specific population group. Americans who trace their ancestry to one of the areas listed below have a relatively greater chance of carrying the gene for the corresponding disease.
Condition 1. Cystic fibrosis 2. Phenylketonuria 3. Hemoglobin S disease (sickle cell anemia) 4. Hemoglobin C disease 5. Cooley's anemia 6. Tay-Sachs disease
Geographic Area of Origin Northern Europe Northern Europe Central Africa, Mediterranean West Africa Mediterranean, Far East Northern Europe
There are two variants of hemoglobin which appear on this list, hemoglobins "S" and "C." Of the more than 150 different hemoglobin variants that have been identified, only these two occur with a frequency in the United States for which it is economically reasonable to offer large scale hemoglobin testing. Sickle cell trait is estimated to occur in 8 per cent of black Americans and in 1/2 to 3 per cent of Spanish-speaking Americans, depending on the country of origin. Some other inherited conditions which are visible and may be known to the counselee are cleft lip and polydactyly (excessive number of fingers and toes). Cleft lip occurs less frequently in black persons than in white persons while for polydactyly the reverse situation occurs. In most instances we are unable to explain an increased frequency of an unusual gene in a particular population group. In the case of the gene for sickle hemoglobin, however, there is substantial evidence concerning the factor which causes its relatively high frequency. For centuries malaria has been widespread in the geographic areas where the sickle gene is found in relatively high frequency, namely, Central Africa and areas of Italy, Greece, Turkey, Southeast Asia, and India. A variety of studies support the conclusion that the carrier for hemoglobin S (i.e., the 822 AJPH AUGUST, 1975, Vol. 65, No. 8
individual with sickle cell trait) is less susceptible to the lethal effects of malaria in childhood than are persons possessing only hemoglobin A. (There is no evidence, however, that children with sickle cell anemia fare better than others against malaria.) Having sickle cell trait is, therefore beneficial to persons in terms of protection against malaria. In countries where malaria occurs infrequently, such benefit obviously is no longer present. It should be pointed out, therefore, that the presence of the sickle cell gene and dark skin in the same geographic area is coincidental. The sickle gene's presence in individuals whose ancestry can be traced to parts of Africa is unrelated to the skin pigmentation found in individuals from those African areas. Deficiencies in a counselee's knowledge can in part be determined from his questions. It is also reasonable to assume that the counselee does not usually possess a working knowledge of hemoglobin, its function, and why hemoglobin S in the homozygous state impairs the circulation of red cells. A brief description of these entities and functions in lay terms early in a counseling session can help to remove a sense of foreboding mystery about the cause of sickle cell anemia. A frequently adequate description goes as follows: "When we breathe we take in oxygen, which the body needs to survive. This oxygen is carried to the various parts of the body by the red substance in blood, known as hemoglobin. The hemoglobin is contained in the red blood cells, which normally are round in shape. In some persons with S hemoglobin inherited from both parents (sickle cell anemia) the hemoglobin under certain conditions changes shape, causing the red blood cells to become irregular in shape, sometimes like a sickle.* When this occurs the cells become less flexible and do not easily pass through the small vessels of the body. The sickled cells form plugs in these small blood vessels and stop blood flow. Organs supplied by these vessels are thereby deprived of the necessary oxygen, causing pain and damage."
It is important that the counselor establish some common understanding of a gene, how genes relate to hemoglobin S, and how they are transmitted from parents to child. This frequently can be dealt with in the following manner: "Genes are the chemical structures in the cells of our body which determine many things such as
height, color of skin and hair, weight, and the red color of the blood. Genes are passed from parent to child at the time that a man's sperm joins with a woman's egg. Occasionally, a gene undergoes a change in such a way that some part of the body does not function properly. Many generations ago, a gene which determines the hemoglobin underwent a change which causes it to produce a different kind of hemoglobin, called hemoglobin S. This is the hemoglobin found in individuals with sickle cell anemia and trait. In order to have sickle cell anemia a person must receive one such gene from each parent. If the child receives such a gene from only one parent he has what is called sickle cell trait, without anemia." *Many urban dwellers do not know what its shape.
a
sickle is
or
Allow Opportunity for the Counselee to Voice Anxieties Anxieties about hereditary conditions cluster around the following concerns: 1. In some communities a social stigma is unjustly associated with certain inherited disorders, leading to social isolation, pity, and a decrease in the opportunities for marriage. The person who has sickle cell trait may need to be reassured that this condition should not interfere with his job, prevent him from finding a marriage partner, increase his insurance risk, or limit where he lives. The wise counselor will refrain from expressing attitudes or using terminology which would tend to imply that either sickle cell anemia or the trait are socially undesirable conditions. 2. Realizing that black Americans and Spanish-speaking Americans, the groups in North America who are primarily affected by sickle cell, are minority groups who are rightfully proud of their ethnic identities, the counselor should be aware that any program which implies family planning may be interpreted as promoting genocide. 3. The self-image of the individual who is told that he has a hereditary condition frequently suffers as a result of this information. The counselor should be sensitive to choice of alternative adjectives, as, for example, referring to sickle hemoglobin as a changed hemoglobin rather than an abnormal hemoglobin. The individual may easily extrapolate from "abnormal hemoglobin" to a concept of "abnormal self" when attempting to assimilate the concept of a hereditary condition which affects him. When a person comes to believe that he or she is an abnormal or set apart person, one of the major aspects of self-image, sexuality, is frequently threatened. In the case of a married couple, misconceptions about reproductive ability can place unusual strains on the marriage relationship. An important experience during adolescence and early adulthood is the development of new sexual roles. Hearing that he has a genetic condition such as sickle cell trait may interfere with an individual's development of normal adult sexuality. A young person may feel threatened by this information and ask such questions as "Will it prevent me from having children?" If a young counselee hesitates to verbalize these questions, the counselor should consider taking the initiative in discussing them in order to avoid unnecessary apprehensions. The counselee should be assured that the trait does not interfere with sex or prevent reproduction.
Discuss Prognosis of Sickle Cell Anemia One of the criteria which may enter prominently into the "decision-making" process for parents at risk of having a child with sickle cell anemia is the prognosis for the child. The prognosis of sickle cell anemia is frequently stated in terms of a set of dire clinical disabilities and shortened life. Since the manifestations of sickle cell anemia vary greatly among affected individuals, this is not an accurate representation. Some individuals with sickle cell anemia die
in early childhood, while some live to middle age, and a few live a normal life span. Some have very frequent crises; others have crises only very rarely. Some individuals with sickle cell anemia live very restricted lives but others are able to function at normal or near normal capacities on the job and in family life. The most frequent complications should be explained as well as the fact that current treatment is primarily symptomatic, with no cure currently available. However, counselees should also be aware that considerable research is currently going on. Among the objectives of this research are the control or prevention of sickle cell crises and intrauterine diagnosis in fetuses who would be bom with sickle cell anemia. It is a disservice to the counselee to prematurely raise expectations about specific treatment or on the contrary to disparage prospects of developing effective treatment.
Discuss the Risks for Having Children with Sickle Cell Anemia and Sickle Cell Trait Given the widespread awareness of sickle cell anemia generated through the various communications media, a significant number of individuals who discover that they have sickle cell trait are concerned about the risk for sickle cell anemia for their children. Others on consulting the counselor for the first time will possess essentially no prior knowledge of the hereditary nature of this condition. If the counselor can determine the counselee's knowledge on this question, his discussion of genetic risk can be tailored to the situation. In order to understand genetic risk, the counselee must comprehend the principle of probability or chance events. In most cases this concept is best conveyed by using examples in which this principle operates and with which the counselee is likely to be familiar, such as the odds of heads or tails when flipping a coin. The individual who has the trait should clearly understand that this principle applies to genes which make hemoglobin and that all genes occur in pairs or as duplicate sets. Someone with the trait passes on to the child the gene for either hemoglobin A (usual hemoglobin) or S (sickle hemoglobin) but not both. Each gene has a 50 per cent chance of being transmitted to any given child. It is usually helpful to diagram the concepts of gene pairs, the transmission of only one member of each pair from parent to child, and the risk that parents of a known hemoglobin type would have a child with sickle cell anemia (Figure 1). The chance that a given child will receive the gene for S from one carrier parent is always 50 per cent and the chance that he will receive two genes for S from two carrier parents is always 25 per cent. These chances are not influenced by the outcome in any previous child by the same carrier parents. Finally, the counselee must understand that in order for an individual to have sickle cell anemia, he must possess two genes for hemoglobin S, one from each parent. Hemoglobin C is another inherited type of hemoglobin, SICKLE CELL TRAIT COUNSELING
823
the possibility of his children having sickle cell anemia. At this point in time this man faces three alternative risks, depending on his choice of mate. One appropriate way to respond to his anxiety is to explain the three alternative situations: (1) The frequency of individuals with trait in the black American population is estimated to be about 8 per cent. Therefore, if he selects a spouse from this population, without being aware whether she has trait, the chance that she would have trait and that any given child produced would have sickle cell anemia is 2 in 100 (1 x 0.08 x 0.25). (2) If his spouse has been tested and found to have trait then the risk for each child having sickle cell anemia is 25 per cent. (3) If his prospective spouse was tested and found to possess no varient hemoglobin the risk of sickle cell anemia among their children is zero except for the rare occurrence of a recurrent mutation. Outlining risks in this manner offers this man the knowledge that he has the power to exercise a choice concerning risk of sickle cell anemia among his children.
found in much lower frequency in this country than hemoglobin S. Approximately 2 per cent of black Americans have the C trait which, like the S trait, causes no problems in those that have it. Hemoglobin C can occur in combination with hemoglobin S (SC). The latter combination produces hemoglobin S-C disease with clinical symptoms similar to sickle cell anemia but often with lesser severity. The risk of hemoglobin S-C disease in a child of two carrier parents is diagrammed in Figure 2. The counselor should anticipate the following types of situations or questions concerning genetic risks: Example: A young woman has been told that her first child has sickle cell anemia. Neither parent of the child has this condition. Her question to the counselor is, "What is the chance that my next child will have anemia?" Since the child with sickle cell anemia received two genes for hemoglobin S, both parents must be carriers. For each subsequent pregnancy by these same two parents there is still a risk of 1 in 4 (25 per cent) for sickle cell anemia (1/2 x 1/2 = 1/4). Example: During a screening program an 18-yearold unmarried black man learned that he has sickle cell trait. On the basis of preliminary information about the trait, he understands that this is an inherited condition and somehow related to sickle cell anemia. He is experiencing considerable anxiety over
The risk for recurrence of trait is not likely to be of major concern to most prospective parents because of the relatively insignificant medical problems associated with it. The counselor should make certain, however, that the counselee appreciates the chances of trait recurrence so that Mother (sickle cell trait)
Father (sickle cell trait)
AS
s '11.
.A
-11,
AS
AS
(sickle cell anemia)
(sickle cell trait)
(all usual hemoglobin)
Children
25%
506
25%
Ss
FIGURE 1 Risk of sickle cell anemia. AA = all usual hemoglobin; AS = sickle cell trait; SS = sickle cell anemia; A = the gene for hemoglobin A; S = the gene for hemoglobin S.
MoreArLter
Father
Children
25%
25%
25%
25%
(all usual hemoglobin)
("C" trait)
(sickle cell trait)
(S-C disease)
FIGURE 2 Risk of hemoglobin S-C disease.
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AJPH AUGUST, 1975, Vol. 65, No. 8
they will be alerted to the potential importance of having their children tested. Among the children of two parents with trait, or of a set of parents where one parent has trait and the other neither trait nor anemia, each individual has a 50 per cent chance of possessing trait.
but want to minimize the number of times that they will take the 25 per cent chance. 4. Two prospective parents with trait may adopt all of their children. 5. Two prospective parents with trait may choose to remain childless.
Stress the Right for Individual Decision-Making
Explicitly Offer Opportunities for Questions
There are many factors affecting any counselee's decision-making process. Some of these are rational and relate directly to factual information provided by the counselor. Others are emotional, based on the individual's background, his self-image, the opinions of his family and/or close friends, etc. In any event, it is important that the counselor at all times support the counselee's right to self-determination concerning decisions about present and future life situations. To be able to make decisions it is essential that counselees be given complete and factual information by the counselor. It should be recognized that many of the counselees are just entering adulthood and simultaneously facing many changes in how they relate to others and to the outside world. As they enter adulthood they are expected to make responsible decisions in many areas. In addition to the difficulties of assuming adult responsibilities, counselees are often faced with discrimination due to their ethnic origins, or with a difficult social environment in which they are expected to fail. It should, therefore, not be surprising that when they are faced with a condition which threatens self-image and perception of sexuality, many concerns seemingly unrelated to sickle cell may emerge.
This is particularly important for the counselee who is reticent. While it is not to be expected that he can identify all of his questions during the initial counseling session, it is necessary that two-way communication be established. Genetic counsel perceived only as a set of facts is of less value than when the counselee verbally tests it against his prior knowledge and experience.
Test the Counselee's Understanding of Key Concepts The counselor cannot, of course, predict whether the counselee in later years will make an accurate assessment of the information he has received. He ought, however, to satisfy himself that the counselee has accurately perceived the major items of information during or soon after the counseling session. One aid in determining this is to administer a brief questionnaire to the counselee near the conclusion of the counseling session (Appendix B). It also identifies those areas where more counseling may be needed.
Offer Follow-up Counseling Explain the Options for Preventing the Occurrence of Sickle Cell Anemia If a young adult with sickle cell trait expresses the desire to prevent sickle cell anemia in his children, there are basically five options available, currently. It should not be assumed that all options are equally realistic or desirable in any given instance, or that they are universally available. 1. He/she may engage in reproduction without regard for any or all risks of the occurrence of sickle cell anemia. 2. He/she may select a spouse who has been proven not to possess "'S" or "C" trait.* 3. Two prospective parents who possess the trait may initiate their family (one child) by mating and complete it by adopting additional children. This first child, of course, has the usual 25 per cent chance of having sickle cell anemia. The rationale for this option is that prospective parents may feel strongly that they want a biological child * This does not prevent the possibility that a spouse without S or C trait may be a carrier for thalassemia. Among the children of a set of parents where one has sickle trait and the other is a carrier for thalassemia there is a 25 per cent chance for occurrence of sickle cell-thalassemia, a disease with some similarities to sickle cell anemia.
On occasion, the counselee will discover after leaving session that he is hopelessly confused about counseling the the information which was discussed. Also, with opportunity for more leisurely reflection, unanswered questions will become apparent. Through discussion with parents, peers, and other trusted friends, it is likely that additional questions will arise. In each case, it is crucial that should the counselee at any time find himself in a state of uncertainty or anxiety, he can be assured of the counselor's continued availal?ility to him. In some instances at least one follow-up counseling session should be arranged to deal with potential questions or misunderstandings. The counselor needs to be sensitive to the potential needs of other members of the counselee's family. In those instances where the counselee has sibs at risk for sickle cell trait it is appropriate that the counselor assist in making testing and counseling available to those individuals desiring it.
Problems Encountered in the Counseling Situation Several key problems can complicate the counseling process and if not approached with sensitivity and care may SICKLE CELL TRAIT COUNSELING
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lead to negative consequences for the counselee. Various factors in the family context of the counselee can determine his receptivity to information about sickle cell. Instances of teasing by sibs has been reported. The manner in which sickle cell is presented on television, radio, and in fund raising advertisements frequently is insensitive to feelings and needs of individual carriers. This increases the likelihood that a given carrier has a distorted concept of sickle cell as it applies to him. This situation, coupled with ridicule or bantering from sibs or peers, we believe can be a potent deterrent to the young adult's receptivity to further discussion about his own situation. Whenever such a problem is detected the empathy of the counselor can be particularly instrumental in relieving the counselee's anxiety. No single approach can be universally followed; however, encouraging the counselee to verbalize his situation in some detail is usually valuable. Other factors growing out of the family context may be important to the counseling situation: family size, economic status, adult role expectations, and quality of educational opportunity. The actual contribution of these factors has not been ascertained and informed efforts to adapt counseling to these factors obviously must await the findings of research in the area of genetic counseling. A situation of major concern is the occasional young adult with sickle trait who upon arrival in the counselor's office is relatively unresponsive or even seemingly misleading in the few responses he/she does make to questions. The frequently stated reason for seeking counsel is that someone in the organization or laboratory where their sickle test was performed instructed them to do so. If the counselor finds it impossible to establish meaningful two-way communication he will find it difficult to assess how accurately the counselee perceives the information which is discussed. It is important that the counselee does not feel threatened by this situation and that he does not display threatening attitudes to the counselee. Supporting techniques for conveying information in an interesting manner in such situations are illustrative slides, film loops, and other visual illustration, as well as a brochure which the counselee may study at leisure before or after the counseling session. Another problem situation occurs if neither putative biological parent of a young adult with sickle trait is found to have sickle trait or anemia. The most frequent cause of such a finding is nonpaternity since it occurs with much greater frequency than the estimated frequency of fresh mutation per gene locus in man, which is on the order of 10-5 to 10-6. If it appears likely that the discrepant sickle cell test results will expose nonpaternity to either spouse or to their child the counselor may be advised in some instances to emphasize the possibility of the less probable interpretation, i.e., a fresh mutation, when discussing the test results. When the counselor is in doubt as to the likely effect of the information about nonpatemity or how to deal with such information, it would be wise to seek the assistance of a psychologist, marriage counselor, or the counselee's minister. The potential threat to family relationships which is 826 AJPH AUGUST, 1975, Vol. 65, No. 8
posed by exposure of nonpaternity could be avoided in some instances if sickle cell testing and counseling were primarily focused on young adults. The parents of young adults have frequently already completed their reproduction and knowledge about their carrier status is no longer of practical significance for them. Whenever the counselor has such an option it is wise not to encourage that the young adult's parents be tested for sickle cell trait.
Conclusion The guidelines presented here touch on those aspects of counseling which we at present consider to be of major significance. Clearly, the process is more complex than giving the counselee a probability for the occurrence of sickle cell anemia among his/her children. Unfortunately, this simplistic concept of counseling is too frequently followed. We would stress, however, that the counseling format which is most valuable for a particular counselee will only become apparent as careful research on the counseling process is carried out. Follow-up evaluation, dealing with such items as accuracy with which information is transmitted during counseling, emotional responses to counseling, long term utilization of counsel, and factors which influence utilization of counsel are an essential part of a sickle cell counseling program. The nature of such follow-up study will be tailored to the type of population being served and available resources. Systematic follow-up observation on response to medical care is an established vehicle for arriving at improvement in medical care in most areas of medical practice. The area of sickle cell counseling, and counseling for inherited conditions in general, should be no exception. ACKNOWLEDGMENTS The following individuals contributed helpful critique during the development of these guidelines: Rae Bennett, RN, Job Corp Health Consultant; Yvette Francis, MD, Jamaica Hospital, Queens, New York; Robert Murray, MD, Howard University; Donald Rucknagel, MD, PhD, University of Michigan; Aaron Smith, MSW, MPH, Stanford University; George Tolbert, MD, Howard University; Charles Whitten, MD, Wayne State University. The authors, however, accept full responsibility for the form in which the guidelines are here presented.
APPENDIX A QUESTIONS FOR SICKLE CELL COUNSELORS Please give the best answer to each question by placing a circle around the letter beside it. 1. What is the chance of having sickle cell anemia if neither of your parents had the sickle cell gene? a. 50% b. 25% c. 0% d. 100% 2. Sickle cell anemia occurs among people from different geographical areas. Select the incorrect answer. a. Caribbean
b. c. d.
Mexico Africa Japan
3. The sickle cell gene affects a. the blood type b. the hemoglobin in the red blood cells c. the shape of the blood vessels d. the blood pressure 4. In a person with sickle cell anemia, there are sickle cells that can be observed a. at all times b. occasionally c. only when there is too much oxygen circulating in the blood d. only when there is too little oxygen circulating in the blood 5. Having the sickle cell trait is like having sickle cell anemia a. True b. False c. Don't know 6. If you have one sickle cell gene a. all of your children will get the gene b. none of your children will get the gene c. each child has a 50:50 chance of receiving the gene d. you can't have any children because of the gene 7. Malaria causes sickle cell anemia a. True b. False c. Don't know 8. When a person has a sickle cell anemia crisis a. he can't talk b. he usually is in severe pain c. he can't see d. he usually has convulsions 9. Only females can have sickle cell anemia a. True b. False c. Don't know 10. One out of about every 12 blacks has the sickle cell trait a. True b. False c. Don't know 11. Hemoglobin is a. the substance that makes the blood red b. the substance that makes the skin yellow c. the substance that makes the skin brown d. the major component of fingernails 12. Having sickle cell trait does not usually affect your health a. True b. False c. Don't know 13. The sickle red blood cell a. passes through small blood vessels easily b. is carrying more oxygen c. is unable to pass through small blood vessels easily d. is destroyed by the body more slowly than the normal red blood cell 14. If one parent has sickle cell anemia and the other parent does not have either sickle cell trait or anemia, the children would have what chance of having sickle cell trait? a. 25% b. 50% c. 0% d. 100%
15. Having sickle cell trait is an advantage in areas where there is much malaria a. True b. False c. Don't know 16. If both parents have sickle cell trait, what is the chance that their first child would have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 17. If both parents have sickle cell trait, what is the chance that their third child would have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 18. If one parent has sickle cell trait and the other does not have either sickle cell trait or anemia, what proportion of their children would likely have sickle cell anemia? a. 25% b. 50% c. 0% d. 100% 19. All races and nationalities have some genetic problems a. True b. F'alse c. Don't know
APPENDIX B QUESTIONS FOR COUNSELEES 1. Sickle cell trait is a disease a. True b. False c. Don't know 2. Sickle cell trait and sickle cell anemia are found in both men and women. a. True b. False c. Don't know 3. People of all races and nationalities have genetic
4.
5.
6.
7.
problems. a. True b. False c. Don't know How do people get sickle cell? a. They are born with it. b. They catch it through sexual contact. c. They catch it like measles. If two people with sickle cell trait have children, the chance of each child having sickle cell anemia is: a. One in two (50%) b. One in three (33%) c. One in four (25%) Sickle cell trait helps to protect against the effects of malaria. a. True b. False c. Don't know Sickle cell trait is much more common than sickle cell anemia. a. True b. False c. Don't know
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