Genetic Analysis of Thalassemia in Children in Liuzhou of Guangxi Zhuang Autonomous Region
10.19746/j.cnki.issn1009-2137.2024.05.029
- VernacularTitle:广西柳州地区儿童地中海贫血基因分析
- Author:
Bi-Yu LU
1
;
De-Jian YUAN
;
Li-Shuang HUANG
;
Liu-Qun QIN
;
Qing-Yan ZHONG
Author Information
1. 柳州市妇幼保健院医学遗传科,柳州市地中海贫血精准防治重点实验室,广西妇产疾病临床医学研究中心,广西柳州 545001
- Keywords:
thalassemia;
children;
gene;
nation;
Liuzhou
- From:
Journal of Experimental Hematology
2024;32(5):1490-1495
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the characteristics of thalassemia gene types in children in Liuzhou,Guangxi.Methods:A total of 822 children suspected thalassemia aged from 1 day to 14 years who were admitted to our hospital from January 2019 to April 2022 were collected.Gap-PCR and PCR combined with reverse dot blot hybridization were used to detect α-and β-thalassemia genes.Results:Among 822 children,561 thalassemia carriers were detected,with a detection rate of 68.25％.Among them,303 cases were detected with α-thalassemia,and the most common genotype was--SEA/αα(163 cases),followed by-α3.7/αα(37 cases)and αcsα/αα(26 cases),44 cases with HbH disease.240 cases were detected with β-thalassemia,with a detection rate of 29.20％,and the most common genotype was βCD41-42/β N(112 cases),followed by βCD17/βN(75 cases)and βIVS-Ⅱ-654/β N(11 cases),11 cases with moderate to severe β-thalassemia.18 cases were detected with α β-thalassemia,with a detection rate of 2.19％,and--SEA/αα complex βCD41-42/βN was the most common genotype(4 cases).In Zhuang and Han populations,the detection ratio of-α3.7α/αα in α-thalassemia was the same(both 12.50％).While,the other main types such as--SEA/αα,αCSα/αα and-α4.2α/αα had certain differences.In β-thalassemia,CD41-42 and CD17 were the main genotypes detected in Han and Zhuang.Conclusion:In Liuzhou of Guangxi autonomous region,α-thalassemia is the main type in children,with a detection rate of 68.25％,and--SEA/αα is the most common genotype in mild thalassemia,followed by βCD41-42/βN.The detection rate of moderate to severe α-and β-thalassemia is relatively high.There are certain differences in the distribution of thalassemia among different ethnic groups.
