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01-05-2013 | Case Report

Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia

Authors: Hisanori Fujino, Sayoko Doisaki, Young-Dong Park, Asahito Hama, Hideki Muramatsu, Seiji Kojima, Shinichi Sumimoto

Published in: International Journal of Hematology | Issue 5/2013

Abstract

The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

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Title: Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia
Authors: Hisanori Fujino
Sayoko Doisaki
Young-Dong Park
Asahito Hama
Hideki Muramatsu
Seiji Kojima
Shinichi Sumimoto
Publication date: 01-05-2013
Publisher: Springer Japan
Published in: International Journal of Hematology / Issue 5/2013
Print ISSN: 0925-5710
Electronic ISSN: 1865-3774
DOI: https://doi.org/10.1007/s12185-013-1338-4

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