The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China

PLoS One. 2014 Feb 27;9(2):e89855. doi: 10.1371/journal.pone.0089855. eCollection 2014.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • China / epidemiology
  • Codon
  • Female
  • Gene Frequency
  • Genotype
  • Geography, Medical
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Male
  • Mutation Rate
  • Mutation*
  • Pregnancy
  • Prevalence
  • alpha-Globins / genetics*
  • alpha-Thalassemia / epidemiology*
  • alpha-Thalassemia / genetics*
  • beta-Globins / genetics*
  • beta-Thalassemia / epidemiology*
  • beta-Thalassemia / genetics*

Substances

  • Codon
  • alpha-Globins
  • beta-Globins

Grants and funding

The study was the program of the medical scientific research fund of Guangdong; the numbers were C2012009 and C2012010. This work was supported by the fund from the program of thalassemia prevention and control of Guangdong Province (the number of government document was Guangdong Finance [2011] 531). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.