Description
We report the case of a Pakistani girl, born of consanguinous parents, who pesented with severe anaemia and hyperbilirubinaemia at birth necessitating exchange transfusion. After extensive investigation a diagnosis of congenital dyserythropoietic anaemia (group IV) was confirmed on bone marrow electron’ microscopy. In view of increasing transfusion requirements and progressive splenomegaly, a splenectomy was performed at the age of 3 years 7 months which resulted in transfusion independence. This is the first report of transfusion independence following splenectomy in a patient with group IV congenital dyserythropoietic anaemia.
