The prevalence and molecular spectrum of α- and ß-globin gene mutations in 14,332 families of Guangdong Province, China.
PLoS One
; 9(2): e89855, 2014.
Article
en En
| MEDLINE
| ID: mdl-24587075
ABSTRACT
OBJECTIVE:
To reveal the familial prevalence and molecular variation of α- and ß-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 ß-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 ß-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 ß-thalassemia carriers) was 1.87%, and the individual carrier rates of α- and ß-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 ß-thalassemia in Guangdong Province. This study will contribute to the development of thalassemia prevention and control strategies in Guangdong Province.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
/
Globinas alfa
/
Globinas beta
/
Mutación
Tipo de estudio:
Prevalence_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Male
/
Newborn
/
Pregnancy
País/Región como asunto:
Asia
Idioma:
En
Revista:
PLoS One
Asunto de la revista:
CIENCIA
/
MEDICINA
Año:
2014
Tipo del documento:
Article