The Prevalence and Molecular Spectrum of α- and β-globin Gene Mutations in 14,332 Families of Guangdong Province, China

Overview

Journal PLoS One

Specialties General Medicine
Science

Date 2014 Mar 4

PMID 24587075

Citations 51

Authors

Aihua Yin

Bing Li

Mingyong Luo

Longchang Xu

Li Wu

Liang Zhang

Yuanzhu Ma

Tingting Chen

Shuang Gao

Juqing Liang

Hao Guo

Danqing Qin

Jicheng Wang

Tenglong Yuan

Yixia Wang

Wei-Wei Huang

Wen-Fei He

Yanxia Zhang

Chang Liu

Sujian Xia

Qingshan Chen

Qingguo Zhao

Xiaozhuang Zhang

Affiliations

Soon will be listed here.

Abstract

Objective: To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.

Methods: A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.

Results: A high prevalence of α- and β-globin gene mutations was found. Overall, 17.70% of pregnant women, 15.94% of their husbands, 16.03% of neonates, and 16.83% of couples (pregnant women and their husbands) were heterozygous carriers of α- or β-thalassemia. The regions with the highest prevalence were the mountainous and western regions, followed by the Pearl River Delta; the region with the lowest prevalence was Chaoshan. The total familial carrier rate (both spouses were α- or β-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and β-thalassemia were 1.68% and 0.20%, respectively. The total rate of moderate-to-severe fetal thalassemia was 12.78% among couples in which both parents were carriers.

Conclusions: There was a high prevalence of α- and β-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.

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