Prevalence and genetic analysis of thalassemia in childbearing age population of Hainan, The Free Trade Island in Southern China.

ABSTRACT:

Background

Hainan has one of the high incidences of thalassemia in China, but the epidemiological data in the whole province has not been reported yet. The objective of our study was to reveal the true prevalence and molecular mutation spectrum of thalassemia in the population of Hainan who are of childbearing age.

Methods

We screened 166,936 individuals from 19 cities and counties in Hainan by hematological parameters analysis, and further conducted genetic analysis for individuals whose MCV was less than 82fL.

Results

In total, 21,619 (12.95%) subjects were diagnosed as thalassemia carriers or patients. The overall prevalence of α-thalassemia, β-thalassemia, and α+β-thalassemia were 10.39%, 1.38%, and 1.18%, respectively. Eleven α-thalassemia mutations and sixteen β

SUBMITTER: Wang M 

PROVIDER: S-EPMC8906206 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature