Genotypes of thalassemia in children: an analysis of 30 417 cases.
10.7499/j.issn.1008-8830.2104035
- Author:
Dong-Ming LI
1
;
Sheng HE
Author Information
1. Department of Clinical Laboratory, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530012, China.
- Publication Type:Journal Article
- Keywords:
Child;
Genotype;
Thalassemia
- MeSH:
Child;
China/epidemiology*;
Genotype;
Heterozygote;
Humans;
Mutation;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Chinese Journal of Contemporary Pediatrics
2021;23(8):841-847
- CountryChina
- Language:English
-
Abstract:
OBJECTIVES:To investigate the distribution of genotypes of thalassemia in children in Guangxi, China.
METHODS:A total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.
RESULTS:Among the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --
CONCLUSIONS:There are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --
