Congenital dyserythropoietic anemia type I: report of a case.

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.

• Authors: A Kumar, R Kushwaha, U S Singh
• Journal: Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion (Indian J Hematol Blood Transfus) Vol. 30 Issue 1 Pg. 48-50 (Mar 2014) ISSN: 0971-4502 [Print] India
• PMID: 24554823 (Publication Type: Case Reports)