Diamond-Blackfan Syndrome: A case report

Abstract

Diamond-Blackfan syndrome is a rare hereditary (AR/AD) disorder characterized by an intrinsic defect in erythroid precursor cells with relative insensitivity to erythropoietin. It is also known as Blackfan-Diamond anemia, inherited pure red cell aplasia. It is a rare disorder which presents with anemia in early infancy. This disorder is genetically and clinically heterogeneous in nature. The inheritance is mainly autosomal dominant. Approximately 25% of the cases are associated with craniofacial anomalies and some cases may end up in malignancy. The diagnosis is made by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members confirms the diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the t r e a t m e n t o f c h o i c e . I n o t h e r c a s e s , corticosteroids and cyclosporine A have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a female baby who had anemia at birth and was brought to us at the age of 2 months. The diagnosis of Diamond-Blackfan syndrome was made since the patient presented with anemia and showed reticulocytopenia, gross reduction in Red Blood Cell (RBC) count, and reduction in red cell precursors in the bone marrow.