Prevalence and Genetic Analysis of Thalassemia and Hemoglobinopathy in Different Ethnic Groups and Regions in Hainan Island, Southeast China.

ABSTRACT: Background: There are limited studies on the molecular profile of thalassemia in Hainan, the free trade island in China. Our aim was to reveal the prevalence and molecular mutation spectrum of thalassemia in different ethnic groups and regions of Hainan through a large sample study for the first time. Methods: A total of 231,596 individuals from 19 cities and counties in Hainan were screened by hematological parameter analysis, and further genetic analysis was performed on individuals with MCV less than 82 fL. Results: Totally, 31,780 (13.72%) subjects were diagnosed as thalassemia carriers. The overall prevalence of α-thalassemia, β-thalassemia, and α+β-thalassemia were 11.04%, 1.48%, and 1.20%, respectively. We further analyzed the molecular profiles of thalassemia i

SUBMITTER: Wang M 

PROVIDER: S-EPMC9245582 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature