Objective: To explore new genotypes of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Guangxi.
Methods: G6PD mutations were identified by combination of denaturing high performance liquid chromatography (DHPLC), DNA sequencing and restriction endonuclease assay.
Results: Three cases (10.0%) of G6PD Viangchan (871G-->A, 1311C-->T) and one case (3.3%) of G6PD Union (1360C -->T) were first identified in China mainland. G6PD Ganton (1376G-->T, 30.0%) was the commonest mutation, followed by Kaiping (1388G-->A, 26.7%), and Gaohe (95A-->G, 23.3%).
Conclusion: Besides G6PD Ganton, Kaiping and Gaohe, there are G6PD Viangchan and Union in Guangxi. G6PD Viangchan and Union is reported for the first time in China mainland.