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    Congenital dyserythropoietic anemia in China: a case report from two families and a review.

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    Authors
    Ru, Y
    Liu, G
    Bai, J
    Dong, S
    Nie, N
    Zhang, H
    Zhao, S
    Zheng, Y
    Zhu, X
    Nie, G
    Zhang, F
    Eyden, Brian P
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    Affiliation
    Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, State Key Laboratory of Experimental Haematology, Tianjin, China
    Issue Date
    2014-05
    
    Metadata
    Show full item record
    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.
    Citation
    Congenital dyserythropoietic anemia in China: a case report from two families and a review. 2014, 93 (5):773-7 Ann Hematol
    Journal
    Annals of Hematology
    URI
    http://hdl.handle.net/10541/322587
    DOI
    10.1007/s00277-013-1933-8
    PubMed ID
    24196372
    Type
    Article
    Language
    en
    ISSN
    1432-0584
    ae974a485f413a2113503eed53cd6c53
    10.1007/s00277-013-1933-8
    Scopus Count
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