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....
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| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | article |
| Lenguaje: | EN |
| Publicado: |
Public Library of Science (PLoS)
2014
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/4e4891b5d23b4106bbfcb799039fa66a |
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| Sumario: | <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. |
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