Guangxi Glucose -6 - Phosphate Dehydrogenase Deficiency Disease

Purpose To find new genotypes of G6PD deficiency in Guangxi. Methods To screening 2-13 exons of 30 G6PD deficiency cases by using denaturing high performance liquid chromatograph(DHPLC) and to Identify G6PD mutations by combination DNA sequencing and restriction endonuclease. Results We first found three cases(3.3%) of G6PD Viangchan (871G→ A,1311C→T) and one case(3.3%) of G6PD Union(1360C→T) in China mainland. G6PD Canton(1376G → T,30.0%) is the most common mutation,followed by Kaiping(1388G→A,26.7%), and Gaohe(95A→G,23.3%.). Conclusion Beside G6PD Canton, Kaiping and Gaohe, G6PD Viangchan and Union exist in Guangxi. G6PD Viangchan probably is characteristic in Guangxi.