Three mutations analysis of glucose-6-phosphate dehydrogenase deficiency in neonates in South-west China

Background: Glucose‐6‐phosphate dehydrogenase (G6PD) deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogeneity. The underlying DNA changes associated with G6PD deficiency in Asian subjects have not been extensively investigated. Methods: Three gene mutations (G1388A, G1376T, A95G, corresponding amino acid change: Arg463His, Arg459Leu, His32Arg, respectively) were examined in 240 G6PD‐deficient subjects originating from South‐west China using specific polymerase chain reaction. Results: Of the 240 patients with G6PD deficiency, 190 were found to have the G1388A mutation, 48 had G1376T and two had A95G. There were no significant differences between the clinical manifestations caused by the former two gene mutations, which both cause acute hemolytic anemia and jaundice. Therefore the most common gene mutations of G6PD deficiency in neonates in South‐west China are G1388A and G1376T mutations. Conclusion: It is suggested that G6PD deficiency screening be done in higher risk neonates with jaundice in qualified hospitals as soon as possible.