MYSTERY STORY

Edited

Mysterious

Iron

Deficiency

Contributed

.

G., A 17-YEAR-OLD Iranian boy,

was

in because of weakness and pallor. He had been in fairly good condition until two years earlier, when he began to experience progressive weakness and was noted to be pale by a physician. He had been treated initially with medications containing iron, as well as with a number of other drugs, but in spite of this therapy, his improvement had not been satisfactory. There was no effort to identify the exact nature of his disease by laboratory examinations, and a blood count had never been carried out. There was nothing remarkable in the patient’s past or family history. He had grown up and lived in a village and was doing farm work. His diet had been relatively poor in animal proteins, but not much different than that of his siblings and the other members of his family who were reported to be in excellent health. The only other subjective problem from which the patient complained was frequent bouts of backache which could not be clearly related to any particular event or specifically to urination, digestion of food, or exercise. At the time of our initial survey, he was a relatively pale young man whose growth and development seemed otherwise satisfactory. His body temperature, blood pressure, and respirations were within normal limits, but his pulse rate

brought

*

Professor of Pediatrics, Teheran

University; Pediatri-

cian, Ahari Children’s Hospital Medical Center; Dean, College of Health Sciences, Imperial Organization for Social Services, Teheran, Iran; Lecturer in Pediatrics, The Johns Hopkins University. t Director, The Central Blood Bank, Teheran versity Medical Center, Teheran, Iran.

Uni-

by Mohsen Ziai,

by

M.D.

Anemia

Forouzandeh Brelian, M.D.t

112 per minute. Some spooning deformity of his nails suggested the possibility of iron deficiency anemia. The remainder of the physical examination was entirely normal, except that his was

spleen

was

barely palpable.

Routine examination of the urine, a chest x-ray, and a stool examination for intestinal parasites and occult blood were all reported as normal. His peripheral blood demonstrated a moderate degree of anemia with a hemoglobin of 8 g/100 ml and a hemocrit of 20. There was a mild leukopenia with a white count of 4,800, but the differential count, including careful examination of the peripheral smear, did not demonstrate any abnormality of the blood elements. Platelets were reported to be seen in sufficient quantities on the blood smear even though an actual platelet count was not carried out. Red cell indices were supportive of the presence of microcytic hypochromic anemia, which was attributed to iron deficiency. The levels of serum iron, iron binding capacity, and serum iron saturation confirmed the presence of an iron deficiency anemia. The bone marrow smear demonstrated normal cellularity and no abnormal cells. The reticulocyte count was 3 per cent which was not considered to be remarkable in view of the patient’s total red blood count of 3,400,000 mP. Many studies were carried out to explain the iron deficiency anemia. It did not seem to be due to poor intake of iron, especially considering the patient’s age. Repeated examinations of the stools failed to demonstrate the presence of occult blood. Radiologic studies of the gastrointestinal tract failed to demonstrate the presence of a specific lesion, such as a hiatus hernia or a peptic ulcer.

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The patient was given an oral iron treatment empirically and was followed, but he failed to improve on this treatment. Specific studies of his total blood for G6PD (glucose phosphate dehydrogenase) deficiency, the Coombs test, serologic tests for syphilis, red cell fragility tests and hemoglobin electrophoresis were all reported as normal. A few repeated blood counts demonstrated the persistence of a slight degree of leukopenia. It was noted also that peripheral smears did not show platelet clumps. Platelet counts were performed and ranged around 60100,000, suggesting the presence of a mild degree of thrombocytopenia. Immunoelectrophoresis studies were normal. Several attempts failed to demonstrate the presence of L.E. cells or antinuclear factors in the patients blood. The patient was therefore given a blood transfusion empirically because he was unable to stay in the city and wanted to return to his village. Even though there was no reaction to the transfusion in the way of chills, fever, or other obvious adverse effects, the patient’s urine became brown. Upon careful examination it was noted to contain hemoglobin, urobilinogen, and hemosiderin. The latter was also present in the leukocytes and epithelial cells of the urine. Following transfusion, the patient’s blood count showed only a slight temporary increase in the hemoglobin and hemocrit. The donor’s blood was specifically tested for the deficiency of G6PD on the theory that this may have been the cause of hemolysis. However, careful examination of the donor himself revealed no such abnormality. Further careful history as well as follow-up observation of the patient demonstrated the nature of his illness. At the time of his first visit, this patient clearly had a picture of iron deficiency anemia for which no cause could be demonstrated. Inasmuch as his iron intake had been fairly adequate, and since there was no reason to suspect that he was suffering from other forms of deficiency anemia, the possibility of bleeding into his lungs had been considered. There were, however, no pulmonary lesions to suggest the possibility of idiopathic pulmonary hemosiderosis, and gastric washings did not demonstrate the presence of hemosid-

erin-containing macrophages. One other possibility which turned out to be the proper diagnosis remained to be explained. An important clue to this thought were three points in the history and the clinical observations. One was the history of recurrent bouts of backache. The second was an unexplained reaction to blood transfusion. A third point which was also of sufficient importance was the persistent, even though mild, degree of pancytopenia. The final diagnosis ultimately reached was that of paroxymal nocturnal hemoglobinuria. Careful

observation of the patient after this diagnosis was considered, demonstrated that indeed after sleep, whether during the night or day, he passed a brownish urine which contained hemoglobin. Upon further questioning, the patient confirmed that he had repeatedly noted the passage of unusually dark urine after sleep, but had not paid much attention to this finding. Whenever confronted with a mysterious anemia of the iron-deficiency type, many possibilities must be considered. Upon careful elimination of the more usual hematologic conditions such as thalassemia minor, lead poisoning, chronic infections, and the various forms of deficiency anemia, as well as the failure to show bleeding into the gastrointestinal tract, which is the commonest type of hemorrhage leading to iron deficiency, there remain two important though rare possibilities. These are bleeding into the lungs in the form of idiopathic pulmonary hemociderosis, and bleeding into the urine. The latter can occur as a result of trauma, as in march hemoglobinuria, though traumatic bleeding can usually be eliminated easily by the history. Another reason for bleeding into the urine is paroxymal cold hemoglobinuria, in attacks precipitated by exposure to cold or chilling. This condition not infrequently results from congenital or acquired syphilis. Having eliminated these causes, one comes to the condition known as

paroxymal nocturnal hemoglobinuria. Paroxymal nocturnal hemoglobinuria or Marchiafava-Micheli syndrome is a disease of unknown pathogenesis. It is related to sleep. Increase in

of the blood may have this phenomenon, inasmuch as exposure of the blood to increased acidity will induce hemolysis in such patients. Conversely, alkalinization of the blood will temporarily inhibit the hemolytic process. Hemolysis can also be induced by the action of properdin system, a constituent of normal plasma. That is the reason why the transfusions of whole blood or plasma may induce a hemolytic reaction in these patients, as was observed in the above case. Pains and aches are not infrequent, but their cause is not clear. In some patients, severe degrees of pancytopenia resembling aplastic anemia or thrombotic phenomena may be observed. Some of these patients actually suffer from aplastic anemia. There is no known treatment for this condition. Some patients may have a spontaneous recovery, while others may temporarily benefit from trans. fusion of washed red cells.

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Reference Hartmann, R. C., and Auditore, J. V.: noctural

hemoglobinuria.

1959.

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Am

J.

Paroxymal

Med. 27: 389,

Mysterious iron deficiency anemia.

MYSTERY STORY Edited Mysterious Iron Deficiency Contributed . G., A 17-YEAR-OLD Iranian boy, was in because of weakness and pallor. He had be...
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