Diamond Blackfan anemia with hypothyroidism and CNS malformations - a rare combination

Abstract

Diamond Blackfan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count . The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones of development and a couple of congenital deformities. Haematological parameters showed elevated fetal hemoglobin level (Hb F 11.8%) and elevated serum TSH (thyroid stimulating hormone)level. Peripheral blood picture showed gross microcytic hypochromic red blood cells and absence of reticulocytes with normal levels of leucocytes and platelets. Bone marrow showed gross suppression of erythroid 
series with M:E ratio of 30:1. Some large pronormoblasts were found. Family history was not significant. Compiling the clinical features, haematological parameters, peripheral smear and bone marrow findings, a diagnosis of DBAwas given.