Sàng lọc người mang đột biến gen G6PD gây thiếu hụt enzym Glucose-6-phosphate dehydrogenase trên thai phụ Việt Nam

To describe the percentage of people who carry the G6DP gene mutation causing enzyme Glucose-6-phosphate dehydrogenase and the characteristics of their mutated variants in Vietnamese pregnant women. Subjects and methods: At the Institute of DNA Technology and Genetic Analysis, a cross-sectional study was conducted on 8464 pregnant women who visited and agreed to perform a screening test for gene carriers related to recessive genetic conditions. All information about pregnant women including maternal age, gestational age, number of pregnancies, and G6DP gene mutation test results are collected. Results: 447 pregnant women (5.28%) carried pathogenic mutations on the G6DP gen among 8464 participants in this study. The c.961G>A mutation (p.Val321Met), and the c.1478G>A mutation (p.Arg493His) are the most common of the G6DP gene mutations detected. Conclusion: The rate of pregnant women carrying G6DP gene mutations is 5.28%, indicating the high prevalence of this gene mutation in Vietnamese pregnant women. In the future, the expansion and development of G6DP gene mutation screening programs in Vietnamese pregnant women is necessary.