Analysis of genotype distribution of thalassemia and G6PD deficiency among Hakka population in Meizhou city of Guangdong Province

OBJECTIVE: The aim of the study was to explore genotype distribution thalassemia and G6PD deficiency in Meizhou city, China. METHODS: A total of 16 158 individuals were involved in thalassemia genetic testing. A total of 605 subjects were screened for common Chinese G6PD mutations by gene chip analysis. Genotypes and allele frequencies were analyzed. RESULTS: A total of 5463 cases carried thalassemia mutations were identified, including 3585 cases, 1701 cases, and 177 cases with α‐, β‐, and α + β‐thalassemia mutations, respectively. ‐‐(SEA) (65.12%), ‐α(3.7) (19.05%), and ‐α(4.2) (8.05%) deletion were the main mutations of α‐thalassemia, while IVS‐II‐654(C → T) (40.39%), CD41‐42(‐TCTT) (32.72%), ‐28(A → G) (10.11%), and CD17(A → T) (9.32%) mutations were the principal mutations of β‐thalassemia in Meizhou. There were significant differences in allele frequencies in some counties. Genetic testing for G6PD deficiency, six mutation sites, and one polymorphism were detected in our study. A total of 198 alleles with the mutation were detected among 805 alleles (24.6%). G6PD Canton (c.1376 G → T) (45.96%), G6PD Kaiping (c.1388 G → A) (39.39%), and G6PD Gaohe (c.95 A → G) (9.09%) account for 94.44% mutations, followed by G6PD Chinese‐5 (c.1024 C → T) (4.04%), G6PD Viangchan (c.871G → A) (1.01%), and G6PD Maewo (c.1360 C → T) (0.51%). There were some differences of the distribution of G6PD mutations among eight counties in Meizhou. CONCLUSIONS: The ‐‐(SEA), ‐α(3.7), and ‐α(4.2) deletion were the main mutations of α‐thalassemia, while IVS‐II‐654(C → T), CD41‐42(‐TCTT), ‐28(A → G), and CD17(A → T) mutations were the principal mutations of β‐thalassemia in Meizhou. G6PD c.1376 G → T, c.1388 G → A, and c.95 A → G were the main mutations of G6PD deficiency. There were some differences of the distribution of thalassemia and G6PD mutations among eight counties in Meizhou.