一个先天性红细胞生成异常性贫血家系SEC23B及HFE2基因突变研究

Congenital dyserythropoietic anemia type II with novel mutations in SEC23B and EFE2 genes： a Chinese family survey

目的探讨先天性红细胞生成异常性贫血（cDA）的新基因突变。方法对一例以乏力及尿色加深起病的50岁男性CDA1I患者及其家系成员进行CDAI的CDAN1和CDA11的SEC23B基因检测，并采用质谱技术检测铁调素水平，结合文献进行复习。结果先证者的SEC23B基因中检测到一个无义突变（c．71G〉A）及一个错义突变（c．74C〉A），在这例患者的健康直系亲属中还检测到HFE2基因的一个杂合突变（c．55A〉G）。同时，先证者血清铁调素水平低于检测下限（〈1nmol／L）。结论该家系中存在一个无义突变（c．71G〉A）及一个错义突变（c．74C〉A），这两个突变在东亚CDAⅡ患者中首次报道，且不同于先前广泛在欧洲患者特别是意大利患者中发现的基因突变类型，可能为东亚CDAII患者特有。

Objective To report novel mutations SEC23B gene in congenital dyserythropoietic anemia （CDA）. Methods By direct sequencing method, we sequenced CDAN1 and SEC23B genes in a Chinese CDA 11 patient, presented with chronic fatigue and dark urine, as well as his family members. Serum hepcidin was assayed by mass spectrometry. Results 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）. Conclusion 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 CDA I1 and are the first report in East Asian CDA 11 patients.