Analysis of Thalassemia Gene Mutation Types and Ethnic Distribution Characteristics in Hechi Area,Guangxi
10.19746/j.cnki.issn1009-2137.2024.04.033
- VernacularTitle:广西河池地区地中海贫血基因突变类型及民族分布特征分析
- Author:
Li-Fang LIANG
1
;
Xiu-Ning HUANG
;
Dong-Ming LI
;
Bi-Yan CHEN
;
Xiang CHEN
;
Zhen-Ren PENG
;
Sheng HE
Author Information
1. 广西壮族自治区妇幼保健院;广西出生缺陷预防控制研究所;广西生殖健康与出生缺陷防治重点实验室;广西出生缺陷防治基础研究重点实验室,广西南宁 530000
- Keywords:
Hechi;
thalassemia;
genotype;
mutation type;
ethnic
- From:
Journal of Experimental Hematology
2024;32(4):1191-1196
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the genotype,mutation type,and ethnic distribution characteristics of thalassemia in the population of Hechi area,Guangxi,and to provide a reference basis for prevention and control of thalassemia and eugenic counseling in the region.Methods:Gap-polymerase chain reaction(gap-PCR)and reverse dot blot(RDB)were used for genetic testing on suspected thalassemia persons,and the results were analyzed.Results:Among 29 136 samples,a total of 17 016(58.40％)positive samples for thalassemia genes were detected,with a higher detection rate in males than in females(X2=49.917,P＜0.001).The detection rates of thalassemia genes were significant different among Zhuang,Han,Yao,Mulao,and Maonan ethnic groups(x2=546.121,P＜0.001).The α-thalassemia genotypes were mainly--SEA/αα(16.67％),-α3.7/αα(8.90％),αCSα/αα(6.00％).Additionally,four rare genotypes were detected,including--THAI/αα(47 cases),HKαα/αα(2 cases),--SEA/-α21.9(2 cases),and--THAI/αcsα(1 case).The β-thalassemia genotypes were mainly βCD17/βN(7.49％),βCD41-42/βN(6.70％),βCD71-72/βN(0.44％).108 cases of moderate and severeβ-thalassemia were detected,of which 81 cases had a history of blood transfusion,the transfusion frequency of 60 cases was more than 10 times/year,and 10 cases received bone marrow transplantation.Conclusion:Thalassemia in Hechi area is predominantly deletion type--SEA/αα,the detection rate of thalassemia in ethnic minorities is higher than that in Han population.In this area,moderate and severe β-thalassemia have certain incidence,these patients mostly need regular blood transfusion and iron removal treatment,and very few patients have received bone marrow transplantation.This study provides a certain reference basis for prevention and control of thalassemia and eugenic counseling in the region.
