Abstract Clinical History.—At 5 months of age an anemia was noted in this boy. Iron treatment was ineffective. Hematocrit values as low as 12% necessitated frequent transfusions. Hepatosplenomegaly soon developed, and, at 7 years, the patient underwent a splenectomy. Since then, few transfusions were necessary. Hematocrit values have been stable at 20% to 25%; reticulocyte counts at about 15%. By age 10, a severe hemosiderosis had developed. Serum iron level was 246μg/100 cc, and the total iron-binding capacity was 307. A histologic examination of the blood showed many target cells, striking hypochromia, and nucleated red cells. At 16 years, growth and sexual development remain retarded (Fig 1 and 2). Denouement and Discussion Thalassemia Major Thalassemia is a severe, usually fatal inherited disease characterized by profound anemia, jaundice, cardiomegaly, splenomegaly, hemosiderosis, expanded marrow space, and generalized growth retardation.1,2 Blood studies show striking poikilocytosis, polychromatophilia, target cells, and nucleated erythroid precursors. References 1. Huehns ER: Thalassaemia . Practitioner 199:51-61, 1967. 2. Nathan DG, Gunn RB: Thalassemia: Consequences of unbalanced hemoglobin synthesis . Amer J Med 41:815-830, 1966.Crossref 3. Weatherall DJ: Genetics of the thalassaemias . Brit Med Bull 25:24-29, 1969. 4. Caffey J: Cooley's erythroblastic anemia; some skeletal findings in adolescents and young adults . Amer J Roentgen 65: 547-560, 1951.
American Journal of Diseases of Children – American Medical Association
Published: Jun 1, 1970