Familial Diamond–Blackfan Anemia. Case Reports and a Review of the Related Literature


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Abstract

We present the case of three sisters with Diamond–Blackfan anemia (DBA) from a consanguineous marriage. These sisters presented within the first 2 months of age with anemia without hepatosplenomegaly together with complete blood count and bone marrow pictures compatible with the diagnosis of DBA syndrome. They were given blood transfusions and then started on prednisolone 2mg/kg/day in divided doses, tapering the dose to a minimum to keep Hb around 90 g/l. DBA in these three sisters from a consanguineous marriage clearly illustrates the autosomal recessive mode of inheritance. The importance of early diagnosis and management with steroid is highlighted along with the need for consideration of other modalities of treatment in those cases not responding to steroid therapy.

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