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

ABSTRACT:

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%) muta

SUBMITTER: Wu H 

PROVIDER: S-EPMC7171329 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature