RESUMO
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.
