Analysis Of 31 Cases Of Children G6PD Deficiency Gene Mutations And Clinical Presentations In Chengdu Area

Objective:To identify glucose-6-phosphate dehydrogenase(G6PD) gene mutations of 31 child patients with G6PD deficiency in Chengdu,China and to explore the relationship between genetic and clinical characteristics.Methods:G6PD gene mutations of patients were detected by using the next-generation DNA sequencing technology, and the clinical data were retrospectively analyzed.Results:Among these 31 cases(male 27,female 4),29 cases(male 25, female 4) were identified with gene mutations. The mutation rate was 93.55%.28 of 29 cases, which account for 96.55% were single gene mutation,8 cases with G1388A(28.57%),7 cases with G1376T (25.00%),4 cases with G487A (14.29%),4 cases with G871A (14.29%),2 cases with A95G (7.14%),2 cases with C1024T (7.14%),1 case with G392T (3.57%).One case had novel compound gene mutations(c.G1388A and c.G77A,SNP:rs368832112), which was first found in China. The clinical characteristics of 31 cases with G6PD deficiency were Favism, or acute hemolytic anemia triggered by infection or other factors such as drugs, and so on.Conclusion:1. G1388A、G1376T、G487A and G871A are the most common gene mutations in Chengdu, accounting for 79.31%, followed by A95G, C1024T, G392T.2. This study showed that G871A and G487A is higher than that of A95G, become a major gene types in Chengdu area.3. One case had novel compound gene mutations(c.G1388A and c.G77A), which was first found in China. But, Currently, the G77A no reports whether pathogenic related research in Han population, pending further study.4. The clinical characteristics of 31 cases with G6PD deficiency were Favism, or acute hemolytic anemia triggered by infection or other factors such as drugs, and so on. But,the case are less, unable to obtain the G6PD genotypes and the enzyme activity and the relationship between the clinical manifestations of a clear conclusion.5. In 7 cases of normal, But the genotypic are not.Therefore, genetic testing is the gold standard for diagnosis.6. For these 2 cases diagnosed in children, but no mutation in gene detection, consider unknown new gene mutation may.