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The morphological diagnosis of congenital dyserythropoietic anemia: results of a quantitative analysis of peripheral blood and bone marrow cells

Haematologica (Impact Factor: 5.87). 06/2010; 95(6):1034-6. DOI: 10.3324/haematol.2009.014563
Source: PubMed
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    ABSTRACT: The congenital dyserythropoietic anemias (CDAs) comprise a group of rare hereditary disorders of erythropoiesis that is characterized by ineffective erythropoiesis as the predominant cause of anemia and by distinct morphologic abnormalities of the majority of erythroblasts in the bone marrow. Congenital dyserythropoietic anemia type I (CDA I) is an autosomal recessive disorder with ineffective erythropoiesis and iron overloading. More than 100 cases have been described, but with the exception of a report on a large Bedouin tribe, these reports include only small numbers of cases. 1,2 CDA-I is uncommonly reported from Indian subcontinent hence we are discussing a case of CDA I. Our case also highlights the fact that diagnosis of CDAI can be made with high reliability by careful examination of bone marrow aspirate.
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