Epidemiological study of thalassemia in the Buyi population of Qiannan Prefecture, Guizhou Province, China based on third-generation sequencing.

ABSTRACT: This genetic epidemiological study aimed to investigate the prevalence of various types of thalassemia among the Buyi population in Qiannan Prefecture, Guizhou Province, China. A total of 1,003 Buyi individuals from five regions in Qiannan Prefecture were enrolled for this study. Peripheral blood samples were collected for routine blood testing and hemoglobin electrophoresis. Thalassemia-related variants were identified using third-generation sequencing (TGS). The overall carrier rate of thalassemia in the Buyi population was 22.83% (229/1003). The carrier rates of α-thalassemia, β-thalassemia, and δ-thalassemia were 16.15% (162/1003), 6.68% (67/1003), and 1.20% (12/1003), respectively. The most common α-thalassemia genotype was -α^3.7/αα (32.89%), followed by --^SEA/αα

SUBMITTER: Wu J 

PROVIDER: S-EPMC12619804 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature