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Congenital dyserythropoietic anemia in China: a case report from two families and a review.
- Source :
-
Annals of Hematology . May2014, Vol. 93 Issue 5, p773-777. 5p. - Publication Year :
- 2014
-
Abstract
- Congenital dyserythropoietic anemias (CDAs) are a group of hereditary disorders characterized by ineffective erythropoiesis and distinct morphological abnormalities of erythroblasts in the bone marrow. Most cases of CDA, caused by a wide spectrum of mutations, have been reported from Europe and Mediterranean countries, while a few cases have been described in China. Here, we present three cases of CDA, one from one family and two from a second unrelated family, with typical morphologic features and clinical presentations. Sequence analysis of CDA-related genes revealed that the proband with CDA Ι in the first family was a compound heterozygote of CDAN1 with mutation IVS-12+2T>C and c. 3389C>T, while both probands with CDA ΙΙ in the second family were a homozygote of the SEC23B gene with mutation c.938G>A (R313H). This study suggests that more patients with CDA, sharing a phenotype and genetic background like those of European and Mediterranean origin, remain to be diagnosed and reported in China. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 09395555
- Volume :
- 93
- Issue :
- 5
- Database :
- Academic Search Index
- Journal :
- Annals of Hematology
- Publication Type :
- Academic Journal
- Accession number :
- 95429637
- Full Text :
- https://doi.org/10.1007/s00277-013-1933-8