Analysis of glucose - 6 - phosphate dehydrogenase the three genetic mutation and clinical manifestations in Hu' nan province

Objective:To investigate the relationship between the three common glucose - 6 - phosphate dehydrogenase (G6PD) gene mutations in Hu'nan .and their clinical manifestation. Methods: The amplification refractory mutation system (ARMS) was used to detect three gene point mutation in 168 G6PD deficient patients that had been diagnosed by using quantitative methods, and analyzed their clinical manifestations. Results:Of the 168 cases, 37 cases were found to have G1388A mutation, 74 had G1376T mutation, 45 had A95G mutation and 12 were undefined for 22%, 44%, 26.8% and 7.2% . The three common gene mutation probably result in severe G6PD activity deficiency, acute hemolytic anemia and jaundice to different extents. Conclusion:The gene mutations of G1376T,G1388A and A95G were the most common mutations in Hu'nan, Patient with these mutations have the same clinical manifestations.