Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.

ABSTRACT:

Background

Thalassemia is an extremely prevalent monogenic inherited blood disorder in southern China. It is important to comprehensively understand the molecular spectrum of thalassemia in an area with such a high prevalence of thalassemia before taking appropriate actions for the prevention and treatment of this disorder. Herein, we explored the clinical feasibility of using next-generation sequencing (NGS) for large-scale population screening to illustrate the prevalence and spectrum of thalassemia in Southern Jiangxi.

Methods

Blood samples collected from 136,312 residents of reproductive age in Southern Jiangxi were characterized for thalassemia by NGS. A retrospective analysis was then conducted on blood samples determined to be positive for thalassemia.

Results

SUBMITTER: Yang T 

PROVIDER: S-EPMC10436446 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature