Congenital dyserythropoietic anemia in China: A case report from two families and a review

Yongxin Ru, Gang Liu, Jie Bai, Shuxu Dong, Neng Nie, Huamei Zhang, Shixuan Zhao, Yizhou Zheng, Xiaofan Zhu, Guangjun Nie, Fengkui Zhang, Brian Eyden

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)773-777
Number of pages5
JournalAnnals of Hematology
Volume93
Issue number5
DOIs
StatePublished - May 2014

Keywords

  • CDAs
  • Chinese
  • Morphology
  • Sequencing

ASJC Scopus subject areas

  • Hematology

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