Glucose-6-phosphate dehydrogenase (G6PD) deficiency, one of the most common human enzymatic defects, is characterized by extreme molecular and biochemical heterogenity. The underlying DNA changes associated with G6PD deficiency in Asian subjects have not been extensively investigated. Recent advances in the molecular biology of G6PD indicate that G6PD deficiency is mainly caused by diverse point mutations and 12 unique point mutations have also been reported to be associated with Vietnamese G6PD variants. However, G871A (Va1291Met), A95G (His32Arg) are the commonly occurring mutations in Vietnamese individuals with G6PD deficiency. A study on G6PD gene mutations and the incidence of various genetic variants in Vietnamese individuals is valuable for clinical diagnosis, population genetics, gene geography, and so on. Two gene mutations (G871A, A95G, corresponding amino acid change: Va1291Met, His32Arg, respectively) were examined in 6 G6PD deficient subjects originating from Ha Nhi, Dao ethnic groups in Vietnam using specific polymerase chain reaction. The results showed that 6 patients with G6PD deficiency, one was found to have the A95G mutation, two had G871A. 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 gen mutations of G6PD deficiency in neonates in North-west Vietnam are G871A mutations. It is suggested that G6PD deficiency screening be done in higher risk neonates with jaundice in qualified hospitals as soon as possible.
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