Congenital dyserythropoietic anemia in a Chinese family with a mutation of the CDAN1-gene.
Congenital dyserythropoietic anemia I (CDA I) is a well-defined entity within the heterogeneous group of the CDAs. So far, most CDA cases were reported from Europe and Israel. A homozygous mutation of the CDAN1-gene was identified from a founder population observed in Bedouin tribes in Israel, and many different mutations in additional cases from Europe were reported. Few cases of CDA I were presented from Asian regions so far, mostly without convincing data and only one case in which a mutation of the CDAN1-gene was detected. Here, the first Chinese family with the typical hematological phenotype, osseous syndactyly and with a compound heterozygous CDAN1-gene mutation is described. Prevalence data of CDA I from Asian countries are not known, but experiences from Europe suggest that in many families the disorder remains undiagnosed.
Ru
Yong Xi
YX
Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 30020, China.
Zhu
Xiao-fan
XF
Yan
Wen-wei
WW
Gao
Jing-tao
JT
Schwarz
Klaus
K
Heimpel
Hermann
H
D000742:Anemia, Dyserythropoietic, Congenital / Q000235:genetics* / Q000473:pathology; D001854:Bone Marrow Cells / Q000473:pathology; D002681:China; D004900:Erythroblasts / Q000473:pathology / Q000648:ultrastructure; D005260:Female; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D009679:Nuclear Family; D009687:Nuclear Proteins
C470477:CDAN1 protein, human; D006023:Glycoproteins; D009687:Nuclear Proteins