探讨红细胞葡萄糖-6-磷酸脱氢酶(G-6-PD)缺乏症患儿及其父母的G-6-PD基因突变类型，分析G-6-PD缺乏症的遗传特点。

选择2013年7月1日至2015年7月1日，于成都市妇女儿童中心医院临床诊断为G-6-PD缺乏症的12例患儿为研究对象。分析其病例资料，并通过二代基因测序(NGS)技术，检测12例患儿及其父母的G-6-PD基因突变发生情况，分析G-6-PD缺乏症的遗传规律。本研究符合2013年修订的《世界医学协会赫尔辛基宣言》，并与患儿监护人签署知情同意书。

①本研究12例临床诊断为G-6-PD缺乏症的患儿，全部检出G-6-PD基因突变，突变类型共计7种，包括6种单个基因位点突变及1种复合基因位点突变。11例单个基因位点突变中，c. 1388G>A及c. 487G>A基因突变各为3例，c. 1376G>T基因突变为2例，c. 95A>G、c. 871G>A及c. 1024C>T基因突变各为1例；复合基因突变c.[-8-631G>A; 1388G>A]为1例。②本研究12例G-6-PD缺乏症患儿中，10例患儿为母亲遗传，包括9例半合子男性患儿及1例杂合子女性患儿(c. 1388G>A)；1例半合子男性患儿为自身突变(c. 1024C>T)；1例纯合子女性患儿为双亲遗传，为少见c. [-8-631G>A; 1388G>A]复合基因突变。

G-6-PD缺乏症男性半合子、女性纯合子及女性杂合子，均可表现为G-6-PD严重缺乏而发病。外周血基因检测可为G-6-PD缺乏症产前咨询及确诊提供依据，从而预防G-6-PD缺乏引发的急性溶血性贫血。

To explore the gene mutation types of children with red blood cells glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and their parents, and to analyze the hereditary characteristics of G-6-PD deficiency.

From 1 July 2013 to 1 July 2015, a total of 12 children with G-6-PD deficiency clinically diagnosed in Chengdu Women′s & Children′s Central Hospital were chosen as research subjects. Clinical data of these children with G-6-PD deficiency were analyzed. G-6-PD gene mutations of these 12 children and their parents were detected by next generation sequencing (NGS), and the rules of inheritance of G-6-PD deficiency were analyzed. The study was performed in accordance with the World Medical Association Declaration of Helsinki revised in 2013, and informed consents were obtained from guardians of all patients.

① A total of 7 types of G-6-PD gene mutations were detected among 12 cases of children with G-6-PD deficiency, including 6 types of single gene mutations and 1 types of compound gene mutation. The single gene mutations in children with G-6-PD deficiency were total of 11 cases. Among them there were 3 cases of c. 1388G>A and c. 487G>A, respectively; and 2 cases of c. 1376G>T; and 1 case of c. 95A>G, c. 871G>A and c. 1024C>T, respectively. The compound gene mutation was 1 case of c. [-8-631G>A; 1388G>A]. ② Mutation genes of 10 cases of children with G-6-PD deficiency were inherited from mothers, including 9 male hemizygotes and 1 female heterozygote (c. 1388G>A). Mutation gene of 1 case of male hemizygote children with G-6-PD deficiency was self gene mutation (c. 1024C>T). One case of c. [-8-631G>A; 1388G>A] gene mutation of a female homozygote compound with 2 mutations which inherited from her mother (c. -8-631G>A) and father (c. 1388G>A), respectively.

The male hemizygote, female homozygote and female heterozygote with G-6-PD deficiency might be manifested as a severe G-6-PD deficiency. Peripheral blood gene test might provide the basis for prenatal counseling, make a definite diagnosis of G-6-PD deficiency, and prevent of acute hemolytic anemia induced by G-6-PD deficiency.