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.