title: Congenital dyserythropoietic anemia in China: a case report from two families and a review.
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.
authors.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, ruyongxin@126.com.
authors.forename: Yongxin
authors.initials: Y
authors.lastname: Ru
authors.forename: Gang
authors.initials: G
authors.lastname: Liu
authors.forename: Jie
authors.initials: J
authors.lastname: Bai
authors.forename: Shuxu
authors.initials: S
authors.lastname: Dong
authors.forename: Neng
authors.initials: N
authors.lastname: Nie
authors.forename: Huamei
authors.initials: H
authors.lastname: Zhang
authors.forename: Shixuan
authors.initials: S
authors.lastname: Zhao
authors.forename: Yizhou
authors.initials: Y
authors.lastname: Zheng
authors.forename: Xiaofan
authors.initials: X
authors.lastname: Zhu
authors.forename: Guangjun
authors.initials: G
authors.lastname: Nie
authors.forename: Fengkui
authors.initials: F
authors.lastname: Zhang
authors.forename: Brian
authors.initials: B
authors.lastname: Eyden
mesh_terms: D000328:Adult; D000742:Anemia, Dyserythropoietic, Congenital / Q000145:classification / Q000208:ethnology / Q000235:genetics* / Q000473:pathology; D044466:Asian People; D001483:Base Sequence; D004900:Erythroblasts / Q000378:metabolism* / Q000473:pathology; D004920:Erythropoiesis; D005260:Female; D005838:Genotype; D006023:Glycoproteins / Q000235:genetics*; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins; D010375:Pedigree; D010641:Phenotype; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: C470477:CDAN1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins; C543353:SEC23B protein, human; D033921:Vesicular Transport Proteins