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.
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The authors have no potential conflicts of interest, including specific financial interests, relationships, or affiliations relevant to the subject of this manuscript.
Ethical standards
All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1975, as revised in 2008 (5). Informed consent has been obtained from all patients for being included in the study.
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Ru, Y., Liu, G., Bai, J. et al. Congenital dyserythropoietic anemia in China: a case report from two families and a review. Ann Hematol 93, 773–777 (2014). https://doi.org/10.1007/s00277-013-1933-8
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DOI: https://doi.org/10.1007/s00277-013-1933-8