The prevalence and molecular spectrum of α- and β-globin gene mutations in 14,332 families of Guangdong Province, China.
<h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters....
Enregistré dans:
| Auteurs principaux: | , , , , , , , , , , , , , , , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Public Library of Science (PLoS)
2014
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/4e4891b5d23b4106bbfcb799039fa66a |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
| Résumé: | <h4>Objective</h4>To reveal the familial prevalence and molecular variation of α- and β-globin gene mutations in Guangdong Province.<h4>Methods</h4>A total of 40,808 blood samples from 14,332 families were obtained and analyzed for both hematological and molecular parameters.<h4>Results</h4>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.<h4>Conclusions</h4>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. |
|---|