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. -- (65.12%), -α (19.05%), and -α (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 -- , -α , and -α 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.