Ghosal Type Hematodiaphyseal Dysplasia
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Case Report

A 3 y 9 mo-old boy born to a third degree consanguineous couple was referred for genetic evaluation for progressive abdominal distension and pallor since the age of 1 year. The child first presented to the hospital at 2 years age with severe pallor. There was no history of bleeding from any site, bony pains, fractures, visual problems, developmental delay, or seizures. Examination revealed hepatomegaly (liver span 8 cm) and firm splenomegaly (10 cm below costal margin). There was no bony deformity, facial dysmorphism, icterus or lymphadenopathy. Cardio-respiratory and central nervous system examination were normal. Initial investigations revealed presence of severe anemia (Hb 46 g/L), and thrombocytopenia (37×109/L) with normal leukocyte count. The reticulocyte count, pre-transfusion hemoglobin electrophoresis, renal and hepatic functions were normal. First hour erythrocyte sedimentation rate was 40 mm. Serum iron studies showed borderline iron deficiency anemia. Bone marrow examination showed reactive marrow, with prominence of mature lymphoid cells, normoblastic maturation without any storage/atypical cells. Possible infectious etiologies were excluded. Enzyme assays for storage disorders were normal. Fundus evaluation was also normal. Skeletal survey was unremarkable. He was treated with packed red cell transfusion. By 30 months of age, there was a gradual increase in the blood transfusion requirement to almost every month. Platelets count ranged from 100-150×109/L. There was no history of bleeding....