TY - JOUR
T1 - Congenital dyserythropoietic anemia in China
T2 - A case report from two families and a review
AU - Ru, Yongxin
AU - Liu, Gang
AU - Bai, Jie
AU - Dong, Shuxu
AU - Nie, Neng
AU - Zhang, Huamei
AU - Zhao, Shixuan
AU - Zheng, Yizhou
AU - Zhu, Xiaofan
AU - Nie, Guangjun
AU - Zhang, Fengkui
AU - Eyden, Brian
PY - 2014/5
Y1 - 2014/5
N2 - 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.
AB - 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.
KW - CDAs
KW - Chinese
KW - Morphology
KW - Sequencing
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U2 - 10.1007/s00277-013-1933-8
DO - 10.1007/s00277-013-1933-8
M3 - Article
C2 - 24196372
AN - SCOPUS:84898876069
VL - 93
SP - 773
EP - 777
JO - Annals of Hematology
JF - Annals of Hematology
SN - 0939-5555
IS - 5
ER -