[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].

L. Wang, Gang Liu, Qian Zhang, Hao Cai, Shi wen Niu, Bing Han, Guangjun Nie

Research output: Contribution to journalArticle

2 Scopus citations

Abstract

To report novel mutations SEC23B gene in congenital dyserythropoietic anemia (CDA). By direct sequencing method, we sequenced CDAN1 and SEC23B genes in a Chinese CDA II patient, presented with chronic fatigue and dark urine, as well as his family members. Serum hepcidin was assayed by mass spectrometry. We found a c.71G>A mutation and a c.74C> A mutation in the patient. In addition, a heterozygous c.55A>G mutation of HFE2 gene was found in some family members. The level of serum hepcidin of the patient was below the detection limit (<1 nmol/L). Contrary with what have been reported previously in the Europe, especially in the Italy, the gene mutations identified in this case was different and novel. The two novel mutations contribute to the diagnosis of CDAII and are the first report in East Asian CDAII patients.

Original languageEnglish (US)
Pages (from-to)704-708
Number of pages5
JournalZhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
Volume34
Issue number8
StatePublished - Jan 1 2013

ASJC Scopus subject areas

  • Medicine(all)

Fingerprint Dive into the research topics of '[Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and HFE2 genes: a Chinese family survey].'. Together they form a unique fingerprint.

Cite this