Mahapatro, SitaramBurma, SubratBiswal, PriyadarshiniDundung, SanjeevSurabhiDas, Bidyut Prava2015-04-172015-04-172013-10Sitaram Mahapatro, Burma Subrat, Biswal Priyadarshini, Dundung Sanjeev, Surabhi, Das Bidyut Prava, Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations. Indian Medical Gazette. 2013 Oct ; 147 (10): 390-393.http://imsear.searo.who.int/handle/123456789/157556Diamond Black fan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count (Anaemia). The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anaemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones and a couple of congenital deformities. Haematological parameters showed elevated foetal haemoglobin 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. A 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, PS and bone marrow findings, a diagnosis of DBA was given.enDBAHypothyroidismCNS malformationAnemia, Diamond-Blackfan --bloodAnemia, Diamond-Blackfan --complicationsAnemia, Diamond-Blackfan --diagnosisBone Marrow --analysisCentral Nervous System --abnormalitiesHumansHypothyroidism --diagnosisHypothyroidism --etiologyInfantMaleThyrotropin --bloodThyrotropin-Releasing Hormone --bloodArticle