Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.
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Date
2013-10
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Abstract
Diamond 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.
Description
Keywords
DBA, Hypothyroidism, CNS malformation
Citation
Sitaram 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.