Genotype analysis of thalassemia in children with thalassemia in Wuzhou
10.3969/j.issn.1006-2483.2021.01.021
- VernacularTitle:广西梧州地区地中海贫血儿童地贫基因型构成分析
- Author:
Guodong SHI
1
;
Yanqiong LIU
2
;
Ying LUO
1
;
Yongjian LI
3
Author Information
1. Department of Pediatrics, Wuzhou Maternal and Child Health Hospital, Guangxi Zhuang Autonomous Region, Wuzhou, Guangxi 543002 , China
2. Newborn Screening Center, Wuzhou Maternal and Child Health Hospital, Guangxi Zhuang Autonomous Region, Wuzhou, Guangxi 543002 , China
3. Genetic Laboratory, Wuzhou Maternity and Child Health Hospital, Guangxi Zhuang Autonomous Region, Wuzhou, Guangxi 543002 , China
- Publication Type:Journal Article
- Keywords:
Wuzhou;
Children;
Genotype analysis
- From:
Journal of Public Health and Preventive Medicine
2021;32(1):85-89
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the prevalence and genotype of thalassemia in high-risk children with thalassemia in Wuzhou, and to provide a reference for formulating strategies for the prevention and treatment of thalassemia and for reducing the incidence of thalassemia. Methods Four deletions and 3 point mutations of alpha-thalassemia and 17 point mutations of beta-thalassemia were detected and analyzed by GAP-PCR and PCR combined with reverse dot blot hybridization in children at a high risk for thalassemia in Wuzhou from 2010 to 2018. Results There were 1,421 positive cases in the first screening, and 871 cases were confirmed through genotyping, with a positive rate of 61.29%, including4 deletion types and 14 mutation types. There were 452 cases (51.89%) of α-thalassemia, 337 cases (38.69%) of β-thalassemia and 82 cases (9.41%) of combination of α-thalassemia and β-thalassemia. The common genotypes of α-thalassemia in children in Wuzhou were: --SEA/αα, --SEA/-α3.7, -α3.7/αα, --SEA/αCS αCS, αWSα/αα, --SEA/-α4.2, -α4.2/αα, and αCSα/αα. CD41-42, CD17, -28 and CD71-72 were the most common heterozygotes, while CD41-42/-28, CD41-42/IVS-2-654, and CD41-42/ CD71-72 were the most common double heterozygotes in children with β-thalassemia in Wuzhou. The most common homozygous genotypes were CD41-42 / CD41-42 and -28/-28. Conclusion In order to control thalassemia it is critical to increase investment in large-scale screening of carriers of the thalassemia mutant gene, and to prevent the birth of children with severe thalassemia.
