Analysis of rare genotypes of thalassemia in Laibin area of Guangxi
10.3969/j.issn.1006-2483.2023.01.032
- VernacularTitle:广西来宾地区人群地中海贫血罕见基因型检出情况分析
- Author:
Yuan-yuan HUANG
1
;
Jun HUANG
1
;
Li-hua YE
1
;
Xue-lian SHEN
1
Author Information
1. Laboratory Department of Laibin Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region , Laibin , Guangxi 546100 , China
- Publication Type:Journal Article
- Keywords:
Elderly people;
Coronary heart disease;
Uric acid;
Early intervention
- From:
Journal of Public Health and Preventive Medicine
2023;34(1):131-135
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the rare genotypes and mutation frequency of thalassemia in Laibin area of Guangxi , to intervene the birth of children with moderate or severe thalassemia, and to better guide the genetic diagnosis and prenatal diagnosis. Methods A total of 282 patients of hematological phenotypes inconsistent with genotypes in Laibin City (four counties, one city and one district) were tested for rare genotypes. Results A total of 50 cases were found to carry rare thalassemia gene mutations, including 23 cases of β-globin gene mutation containing 9 types of mutations, and 27 cases of α-globin gene mutation containing 7 types of mutations. There were 4 homotypic thalassemia couples with one party carrying rare thalassemia gene mutation. After prenatal diagnosis, one case was found to be a rare mutation carrier , two cases to be a double heterozygote, and one case to be a common mutation carrier. Conclusion The data of thalassemia genotype spectrum in Laibin , Guangxi. It is suggested that when the hematological phenotype is not consistent with the genotype , it should be detected by other molecular techniques to avoid the birth of children with moderate or severe thalassemia, which is also helpful for clinical diagnosis and treatment guidance, population screening and genetic counseling.
