Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.

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dc.contributor.authorMahapatro, Sitaram
dc.contributor.authorBurma, Subrat
dc.contributor.authorBiswal, Priyadarshini
dc.contributor.authorDundung, Sanjeev
dc.contributor.authorSurabhi
dc.contributor.authorDas, Bidyut Prava
dc.date.accessioned2015-04-17T04:30:04Z
dc.date.available2015-04-17T04:30:04Z
dc.date.issued2013-10
dc.description.abstractDiamond 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.en_US
dc.identifier.citationSitaram 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.en_US
dc.identifier.urihttps://imsear.searo.who.int/handle/123456789/157556
dc.language.isoenen_US
dc.source.urihttps://medind.nic.in/ice/t13/i10/icet13i10p390.pdfen_US
dc.subjectDBAen_US
dc.subjectHypothyroidismen_US
dc.subjectCNS malformationen_US
dc.subject.meshAnemia, Diamond-Blackfan --blood
dc.subject.meshAnemia, Diamond-Blackfan --complications
dc.subject.meshAnemia, Diamond-Blackfan --diagnosis
dc.subject.meshBone Marrow --analysis
dc.subject.meshCentral Nervous System --abnormalities
dc.subject.meshHumans
dc.subject.meshHypothyroidism --diagnosis
dc.subject.meshHypothyroidism --etiology
dc.subject.meshInfant
dc.subject.meshMale
dc.subject.meshThyrotropin --blood
dc.subject.meshThyrotropin-Releasing Hormone --blood
dc.titleDiamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.en_US
dc.typeArticleen_US
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