J Genet Counsel DOI 10.1007/s10897-015-9830-z
ORIGINAL RESEARCH
Assessing Parental Knowledge About Thalassemia in a Thalassemia Center of Karachi, Pakistan Humaira Maheen 1 & Farrukh Malik 1 & Barera Siddique 1 & Asim Qidwai 1
Received: 8 February 2014 / Accepted: 3 March 2015 # National Society of Genetic Counselors, Inc. 2015
Abstract Thalassemia is the leading haemoglobinopathy after sickle cell anemia that accounts for 1.5 % of the global population. In Pakistan, every 1–4 per 1000 infants suffers from Thalassemia. Regardless of being a population Bat high risk^ for Thalassemia major, evidence suggest that Pakistanis possess poor knowledge of the disease. The present study aimed to assess parents’ accurate knowledge about Thalassemia disease at Afzaal Memorial Thalassemia Foundation in Karachi, Pakistan. A total of 172 parents of existing patients who were receiving regular blood transfusion from the center were included in the study. Parents’ knowledge was assessed via a pre-tested and validated Thalassemia knowledge questionnaire. Findings show that 40 % of the sample showed lower knowledge scores about Thalassemia. Among different ethnic origins, Urdu speaking respondents showed a higher average score of correct knowledge about Thalassemia major (21.6± 4.41) as compared to the Siraiki (17.9±4.48) and the Pathans (17.2±4.34). These latter two ethnic groups also showed poor knowledge about Thalassemia minor. Generally parents provided correct answers about treatment of Thalassemia major. The findings suggest targeted interventions are required for high risk ethnic groups. Thalassemia education programs should be offered to extended family members of existing patients by all Thalassemia centers. High risk ethnic groups (Siraiki and Pathan) need rigorous interventions, and Thalassemia worker program should be introduced nationwide.
* Asim Qidwai [email protected] 1
Afzaal Memorial Thalassemia Foundation (AMTF), 1/C, Shahrah-eJhangir, Block 10, FB Area, Karachi, Pakistan
Keywords Thalassemia major . Parental knowledge . Thalassemia minor . Ethnicity . Awareness raising program . Thalassemia knowledge . Genetic counseling . Pakistan
Introduction Thalassemia is the leading haemoglobinopathy after sickle cell anemia that accounts for 1.5 % of the global population (80–90 million people), out of which around 60,000 symptomatic individuals are born each year (Vichinsky 2005). An estimated 2.9 % of the global adult population are carriers of this genetic disorder (BGenetics in Family Medicine: The Australian Handbook for General Practitioners,^ 2007). The prevalence of the disease is high in developing countries, particularly in Asian and Mediterranean countries (Weatherall 2005). In Pakistan, every 1–4 per 1000 infants suffer from Thalassemia, which makes it one of the high risk countries for Thalassemia in the world (Alwan and Modell 1997; Langlois et al. 2008). Estimation shows that more than 4000 cases of Beta-Thalassemia are born in Pakistan per year (Langlois et al. 2008). Although there is no disease registry in Pakistan for Thalassemia, the carrier rate for Beta-Thalassemia has been reported up to 5.3 %, with regional variation ranging from 1.8 to 8.0 % (Ahmed 1998; Alwan and Modell 1997; Khan, Zafar, and Riazuddin 1995). More recent data show national carrier rates at 5–7 % (approximately 10 million) (Ahmed et al. 2002). The associated risk factors are high frequency of the gene, consanguineous marriages, increased birth rate, and large population size (Alwan and Modell 1997).
Maheen et al.
It is reported that Pakistani children rank highest among WHO’s member states of Eastern Mediterranean Region (EMRO) in the list of transfusion dependent Thalassemia disorders (Alwan and Modell 1997). In a recent study it is was reported that in the Pakistani population Beta Thalassemia is more prevalent in Punjabis (60.7 %) as compared with Saraikis (25.5 %) (Ahmed 1998; Ahmed et al. 2002; Khan et al. 1995). Another study investigated the ethnic and geographical ratio of beta Thalassemia distribution in Pakistan and found that the prevalence of the disorder was higher in Sindhis (48 %), followed by Punjabis (21 %), Balochis (19 %) and Pathans (12 %) ethnic groups (Abdullah et al. 2011). Ishaq et al. (2012) reported inadequate knowledge about prenatal diagnosis and premarital screening among parents of children with Thalassemia; however, they did not specifically identify the areas which need improvement, and they did not discuss false conceptions about the disease due to socio cultural and religious factors that influence decision making about birth planning (Gill and Modell 1998). Regardless of being the population Bat high risk^ for Thalassemia major, evidence suggests that Pakistanis possess poor knowledge of the disease (Gill and Modell 1998). This lack of awareness is influenced by societal factors, literacy rate, cultural boundaries and certain religious preferences held by the people. This apparent lack of knowledge and awareness along with psychosocial and cultural issues act as barriers for the prevention and disclosure of the disease (Chattopadhyay 2006). Parental screening helps couples to determine their carrier status and assess the risk of having an affected pregnancy/birth (Atkin et al. 1998) but unfortunately genetic testing is still not a common practice, and diagnoses are not made until parents are faced with serious complications. Even in the event of adverse outcomes such as stillbirth and early deaths, couples avoid genetic testing because of financial restraints, emotional distress, fear of social exclusion and discrimination (Ahmed et al. 2000; Samavat and Modell 2004; Saxena and Phadke 2002). On many occasions doctors do not suggest genetic counseling to the affected Beta-Thalassemia individual, and sometimes it is the individual’s preference, based on religious grounds, to avoid testing procedures (Ahmed et al. 2006; Zahed and Bou-Dames 1997). There are also negative different beliefs and attitudes towards termination of a fetus affected with Thalassemia major (Alkuraya and Kilani 2001; Samavat and Modell 2004). The purpose of this study was to investigate parental knowledge about Thalassemia at Afzaal Memorial Thalassemia Foundation (AMTF) in Karachi Pakistan. The findings were expected to help in identifying areas where parents of thalassemic children lack or possess limited knowledge and to design targeted interventions for the most vulnerable ethnic groups who seek treatment from the Thalassemia centers in Karachi, Pakistan.
Methods Participants The study was conducted at the AMTF, Karachi Pakistan. Data were collected from parents of registered Thalassemic child patients at the AMTF center. Prior to conducting structured interviews, we obtained written or verbal informed consents from parents. Instrumentation We used a pre-existing questionnaire, developed by Armeli et al. (2005) and tested on the Italian population in 2005 (Armeli et al. 2005). The original questionnaire included 61 items to assess knowledge of the causes, symptoms, and treatments of β-Thalassemia. The questionnaire was used with modifications to the demographic section, and a section about Down’s syndrome was removed from the questionnaire as it was out of the scope of the present study. Formal permission to use this instrument was obtained from the first author. The questionnaire was translated into Urdu, the native language. For content validity, a hematologist, two psychologists, and two public health professionals reviewed the questionnaire. The questionnaire is divided into two parts. The first part includes demographic information (age, sex, ethnicity, education, and income), whereas the second part consists of 53 items about disease knowledge, screening methods, and best possible interventions for Thalassemia. The questionnaire was first piloted on 25 parents after translation. It is a self-administering questionnaire; however, since majority of the research participants were not literate, a data collection officer helped the parents complete the questionnaire. IRB Approval The study was critically reviewed and granted approval by our BInstitutional Research Ethics Committee^. Procedure This study was conducted at AMTF Karachi Pakistan. A cross sectional design was used to evaluate existing parental knowledge about Thalassemia. We recruited 172 participants (out of 178 existing patients) for the study who were either mother or father of Thalassemic children, being treated in AMTF at the time of the study. We did not include patients accompanied by a guardian or caretaker. Before recruitment informed consent from every parent (either mother or father) was obtained. Criteria for inclusion in the study were: Parent of a Thalassemic patient who was (1) under treatment at AMTF during 2011–2012, (2) aged 6–18 years, and (3) had been on regular
Parental Knowledge of Thalassemia
blood transfusion. An exclusion criterion was: Parents who did not provide verbal/written consent. Data Analysis For the analysis, we obtained the correct, total score for 33 items assessing Thalassemia knowledge from the questionnaire. We used ANOVA to assess between-group differences in knowledge of Thalassemia, where the groups were defined on the basis of ethnicity, parental education, and monthly income. Post-Hoc tests were conducted using Tukey’s HSD. We also used chi-square analysis to test for association on some preselected questions. A p-value less than 0.05 was considered to be significant. Data were entered into a database file and analyzed by IBM SPSS version 19 (Armonk, NY) software.
Results Participant Demographics The demographic details of our study population are shown in Table 1. More than half of the respondents were male (53.5 %). Various ethnic groups in the study population include Punjabi (5.2 %), Sindhi (11.0 %), Balochi (11.0 %), Pathan (22.7 %), Siraiki (18.6 %), Hazara (4.7 %), Memon (4.7 %) and Urdu speaking (14.5 %). About 50 % of the sample possessed basic education (which included both primary and secondary), whereas 47 % did not attend formal school. The monthly income of about 63 % of the respondents was below PKR 10,000. Only 64 % of the study respondents had undergone the test for Thalassemia; of these, 58 % did so, on the advice of their doctors after their child was diagnosed with Thalassemia major. We selected 33 items from the questionnaire on Thalassemia knowledge (major and minor) with the response categories of Byes,^ Bno,^ and don’t know. The response categories were relabeled as correct, incorrect and don’t know, and a total correct knowledge score for each respondent was then calculated. The frequency of correct, incorrect, and don’t know responses to each question are shown in Table 2. About 97 % of respondents were aware that Thalassemia major patients are anemic and cannot survive if they are left untreated. Likewise 93 % of parents knew that Thalassemia can be identified by a blood test, and 86 % believed that blood transfusion is a treatment modality for this blood disorder. Regarding risk factors of developing Thalassemia, 71 % thought that intermarriages were an important risk factor, while 63 % believed that the disease is preventable. About 60 % thought Thalassemia is a sexually transmitted disease, while 50 % believed that it is an allergic reaction.
Table 1
Demographic characteristics of study participants (N=172)
Variables Gender Male Female Age 18–30 31–40 41–50
ORIGINAL RESEARCH
Assessing Parental Knowledge About Thalassemia in a Thalassemia Center of Karachi, Pakistan Humaira Maheen 1 & Farrukh Malik 1 & Barera Siddique 1 & Asim Qidwai 1
Received: 8 February 2014 / Accepted: 3 March 2015 # National Society of Genetic Counselors, Inc. 2015
Abstract Thalassemia is the leading haemoglobinopathy after sickle cell anemia that accounts for 1.5 % of the global population. In Pakistan, every 1–4 per 1000 infants suffers from Thalassemia. Regardless of being a population Bat high risk^ for Thalassemia major, evidence suggest that Pakistanis possess poor knowledge of the disease. The present study aimed to assess parents’ accurate knowledge about Thalassemia disease at Afzaal Memorial Thalassemia Foundation in Karachi, Pakistan. A total of 172 parents of existing patients who were receiving regular blood transfusion from the center were included in the study. Parents’ knowledge was assessed via a pre-tested and validated Thalassemia knowledge questionnaire. Findings show that 40 % of the sample showed lower knowledge scores about Thalassemia. Among different ethnic origins, Urdu speaking respondents showed a higher average score of correct knowledge about Thalassemia major (21.6± 4.41) as compared to the Siraiki (17.9±4.48) and the Pathans (17.2±4.34). These latter two ethnic groups also showed poor knowledge about Thalassemia minor. Generally parents provided correct answers about treatment of Thalassemia major. The findings suggest targeted interventions are required for high risk ethnic groups. Thalassemia education programs should be offered to extended family members of existing patients by all Thalassemia centers. High risk ethnic groups (Siraiki and Pathan) need rigorous interventions, and Thalassemia worker program should be introduced nationwide.
* Asim Qidwai [email protected] 1
Afzaal Memorial Thalassemia Foundation (AMTF), 1/C, Shahrah-eJhangir, Block 10, FB Area, Karachi, Pakistan
Keywords Thalassemia major . Parental knowledge . Thalassemia minor . Ethnicity . Awareness raising program . Thalassemia knowledge . Genetic counseling . Pakistan
Introduction Thalassemia is the leading haemoglobinopathy after sickle cell anemia that accounts for 1.5 % of the global population (80–90 million people), out of which around 60,000 symptomatic individuals are born each year (Vichinsky 2005). An estimated 2.9 % of the global adult population are carriers of this genetic disorder (BGenetics in Family Medicine: The Australian Handbook for General Practitioners,^ 2007). The prevalence of the disease is high in developing countries, particularly in Asian and Mediterranean countries (Weatherall 2005). In Pakistan, every 1–4 per 1000 infants suffer from Thalassemia, which makes it one of the high risk countries for Thalassemia in the world (Alwan and Modell 1997; Langlois et al. 2008). Estimation shows that more than 4000 cases of Beta-Thalassemia are born in Pakistan per year (Langlois et al. 2008). Although there is no disease registry in Pakistan for Thalassemia, the carrier rate for Beta-Thalassemia has been reported up to 5.3 %, with regional variation ranging from 1.8 to 8.0 % (Ahmed 1998; Alwan and Modell 1997; Khan, Zafar, and Riazuddin 1995). More recent data show national carrier rates at 5–7 % (approximately 10 million) (Ahmed et al. 2002). The associated risk factors are high frequency of the gene, consanguineous marriages, increased birth rate, and large population size (Alwan and Modell 1997).
Maheen et al.
It is reported that Pakistani children rank highest among WHO’s member states of Eastern Mediterranean Region (EMRO) in the list of transfusion dependent Thalassemia disorders (Alwan and Modell 1997). In a recent study it is was reported that in the Pakistani population Beta Thalassemia is more prevalent in Punjabis (60.7 %) as compared with Saraikis (25.5 %) (Ahmed 1998; Ahmed et al. 2002; Khan et al. 1995). Another study investigated the ethnic and geographical ratio of beta Thalassemia distribution in Pakistan and found that the prevalence of the disorder was higher in Sindhis (48 %), followed by Punjabis (21 %), Balochis (19 %) and Pathans (12 %) ethnic groups (Abdullah et al. 2011). Ishaq et al. (2012) reported inadequate knowledge about prenatal diagnosis and premarital screening among parents of children with Thalassemia; however, they did not specifically identify the areas which need improvement, and they did not discuss false conceptions about the disease due to socio cultural and religious factors that influence decision making about birth planning (Gill and Modell 1998). Regardless of being the population Bat high risk^ for Thalassemia major, evidence suggests that Pakistanis possess poor knowledge of the disease (Gill and Modell 1998). This lack of awareness is influenced by societal factors, literacy rate, cultural boundaries and certain religious preferences held by the people. This apparent lack of knowledge and awareness along with psychosocial and cultural issues act as barriers for the prevention and disclosure of the disease (Chattopadhyay 2006). Parental screening helps couples to determine their carrier status and assess the risk of having an affected pregnancy/birth (Atkin et al. 1998) but unfortunately genetic testing is still not a common practice, and diagnoses are not made until parents are faced with serious complications. Even in the event of adverse outcomes such as stillbirth and early deaths, couples avoid genetic testing because of financial restraints, emotional distress, fear of social exclusion and discrimination (Ahmed et al. 2000; Samavat and Modell 2004; Saxena and Phadke 2002). On many occasions doctors do not suggest genetic counseling to the affected Beta-Thalassemia individual, and sometimes it is the individual’s preference, based on religious grounds, to avoid testing procedures (Ahmed et al. 2006; Zahed and Bou-Dames 1997). There are also negative different beliefs and attitudes towards termination of a fetus affected with Thalassemia major (Alkuraya and Kilani 2001; Samavat and Modell 2004). The purpose of this study was to investigate parental knowledge about Thalassemia at Afzaal Memorial Thalassemia Foundation (AMTF) in Karachi Pakistan. The findings were expected to help in identifying areas where parents of thalassemic children lack or possess limited knowledge and to design targeted interventions for the most vulnerable ethnic groups who seek treatment from the Thalassemia centers in Karachi, Pakistan.
Methods Participants The study was conducted at the AMTF, Karachi Pakistan. Data were collected from parents of registered Thalassemic child patients at the AMTF center. Prior to conducting structured interviews, we obtained written or verbal informed consents from parents. Instrumentation We used a pre-existing questionnaire, developed by Armeli et al. (2005) and tested on the Italian population in 2005 (Armeli et al. 2005). The original questionnaire included 61 items to assess knowledge of the causes, symptoms, and treatments of β-Thalassemia. The questionnaire was used with modifications to the demographic section, and a section about Down’s syndrome was removed from the questionnaire as it was out of the scope of the present study. Formal permission to use this instrument was obtained from the first author. The questionnaire was translated into Urdu, the native language. For content validity, a hematologist, two psychologists, and two public health professionals reviewed the questionnaire. The questionnaire is divided into two parts. The first part includes demographic information (age, sex, ethnicity, education, and income), whereas the second part consists of 53 items about disease knowledge, screening methods, and best possible interventions for Thalassemia. The questionnaire was first piloted on 25 parents after translation. It is a self-administering questionnaire; however, since majority of the research participants were not literate, a data collection officer helped the parents complete the questionnaire. IRB Approval The study was critically reviewed and granted approval by our BInstitutional Research Ethics Committee^. Procedure This study was conducted at AMTF Karachi Pakistan. A cross sectional design was used to evaluate existing parental knowledge about Thalassemia. We recruited 172 participants (out of 178 existing patients) for the study who were either mother or father of Thalassemic children, being treated in AMTF at the time of the study. We did not include patients accompanied by a guardian or caretaker. Before recruitment informed consent from every parent (either mother or father) was obtained. Criteria for inclusion in the study were: Parent of a Thalassemic patient who was (1) under treatment at AMTF during 2011–2012, (2) aged 6–18 years, and (3) had been on regular
Parental Knowledge of Thalassemia
blood transfusion. An exclusion criterion was: Parents who did not provide verbal/written consent. Data Analysis For the analysis, we obtained the correct, total score for 33 items assessing Thalassemia knowledge from the questionnaire. We used ANOVA to assess between-group differences in knowledge of Thalassemia, where the groups were defined on the basis of ethnicity, parental education, and monthly income. Post-Hoc tests were conducted using Tukey’s HSD. We also used chi-square analysis to test for association on some preselected questions. A p-value less than 0.05 was considered to be significant. Data were entered into a database file and analyzed by IBM SPSS version 19 (Armonk, NY) software.
Results Participant Demographics The demographic details of our study population are shown in Table 1. More than half of the respondents were male (53.5 %). Various ethnic groups in the study population include Punjabi (5.2 %), Sindhi (11.0 %), Balochi (11.0 %), Pathan (22.7 %), Siraiki (18.6 %), Hazara (4.7 %), Memon (4.7 %) and Urdu speaking (14.5 %). About 50 % of the sample possessed basic education (which included both primary and secondary), whereas 47 % did not attend formal school. The monthly income of about 63 % of the respondents was below PKR 10,000. Only 64 % of the study respondents had undergone the test for Thalassemia; of these, 58 % did so, on the advice of their doctors after their child was diagnosed with Thalassemia major. We selected 33 items from the questionnaire on Thalassemia knowledge (major and minor) with the response categories of Byes,^ Bno,^ and don’t know. The response categories were relabeled as correct, incorrect and don’t know, and a total correct knowledge score for each respondent was then calculated. The frequency of correct, incorrect, and don’t know responses to each question are shown in Table 2. About 97 % of respondents were aware that Thalassemia major patients are anemic and cannot survive if they are left untreated. Likewise 93 % of parents knew that Thalassemia can be identified by a blood test, and 86 % believed that blood transfusion is a treatment modality for this blood disorder. Regarding risk factors of developing Thalassemia, 71 % thought that intermarriages were an important risk factor, while 63 % believed that the disease is preventable. About 60 % thought Thalassemia is a sexually transmitted disease, while 50 % believed that it is an allergic reaction.
Table 1
Demographic characteristics of study participants (N=172)
Variables Gender Male Female Age 18–30 31–40 41–50
