Genetic Testing for Alpha and Beta Thalassemia in Children in Quanzhou Region of Fujian Province in China.
10.19746/j.cnki.issn.1009-2137.2021.04.039
- Author:
Shi-Jie HUANG
1
;
Wen-Li CHEN
2
;
Jian-Long ZHUANG
3
;
Qian-Mei ZHUANG
2
;
Jian-Xing ZENG
1
;
Yuan-Bai WANG
4
Author Information
1. Department of Laboratory, Jinjiang Municipal Hospital, Jinjiang 362200, Fujian Province, China.
2. Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China.
3. Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China E-mail: 415913261@qq.com.
4. Prenatal Diagnosis Center, Quanzhou Women's and Children's Hospital, Quanzhou 362000, Fujian Province, China E-mail: wybslj@163.com.
- Publication Type:Journal Article
- MeSH:
Child;
China;
Genetic Testing;
Genotype;
Heterozygote;
Humans;
Mutation;
alpha-Thalassemia/genetics*;
beta-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(4):1266-1270
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the genotypes and distribution of thalassemia in children in Quanzhou Region so as to provide reference for the prevention and control of thalassemia.
METHODS:A total of 1 302 children with suspected thalassemia were collected from January 2014 to April 2020 in Quanzhou Region. The deletional α-thalassemia was detected by Gap-PCR, and DNA reverse dot blot (RDB) hybridization was used to detect α- and β-thalassemia mutations.
RESULTS:In the 1 302 cases, 667 cases were identified as thalassemia carriers, and the positive detection rate was about 51.23%. Among them, 380 cases of α-thalassemia gene were detected, and --
CONCLUSION:There are various genotypes of thalassemia in children in Quanzhou Region, and many children with thalassemia major or intermedia. Therefore, further prevention and control of thalassemia need to be strengthened for reducing the birth of thalassemia major or intermedia.
