广西柳州地区儿童地中海贫血基因分析

Genetic Analysis of Thalassemia in Children in Liuzhou of Guangxi Zhuang Autonomous Region

目的:了解广西柳州地区儿童地中海贫血(简称地贫)基因类型的特点。方法:收集2019年1月到2022年4月在本院就诊的1天到14岁的822例地贫疑似儿童,采用Gap-PCR、PCR结合反向点杂交技术进行α、β-地贫基因检测。结果:822例疑似地贫患儿中检出地贫携带者561例,检出率68.25%,其中检出α-地贫303例,最多的基因型为--^(SEA)/αα(163例),其次为-α^(3.7)/αα(37例)和α^(CS)/αα(26例),HbH病44例;检出β-地贫240例,检出率29.20%,最多的基因型为β^(CD41-42)/β^(N)(112例),其次为β^(CD17)/β^(N)(75例)和β^(IVS-Ⅱ-654)/β^(N)(15例),中重型β-地贫11例;检出α复合β地贫18例,检出率2.19%,以--^(SEA)/αα复合β^(CD41-42)/β^(N)基因型最多(4例)。在壮族和汉族人群中,α-地贫中的-α^(3.7)α/αα检出比例相同(均为12.50%),其他主要类型如--^(SEA)/αα、α^(CS)α/αα和-α^(4.2)α/αα则有一定差异,而在β-地贫中汉族和壮族中主要检出的是CD41-42、CD17。结论:广西柳州地区儿童以α-地贫为主,检出率为68.25%,轻型地贫以--^(SEA)/αα检出率最高,其次为β^(CD41-42)/β^(N),中重型α和β-地贫检出率较高,各民族间地贫分布具有一定差异。

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 detectα-andβ-thalassemia genes.Results:Among 822 children,561 thalassemia carriers were detected,with a detection rate of 68.25%.Among them,303 cases were detected withα-thalassemia,and the most common genotype was--^(SEA)/αα(163 cases),followed by-α^(3.7)/αα(37 cases)andα^(CS)/αα(26 cases),44 cases with HbH disease.240 cases were detected withβ-thalassemia,with a detection rate of 29.20%,and the most common genotype wasβ^(CD41-42)/β^(N)(112 cases),followed by β^(CD17)/β^(N)(75 cases)andβ^(IVS-Ⅱ-654)/β^(N)(11 cases),11 cases with moderate to severeβ-thalassemia.18 cases were detected withαβ-thalassemia,with a detection rate of 2.19%,and--^(SEA)/ααcomplexβ^(CD41-42)/β^(N)was the most common genotype(4 cases).In Zhuang and Han populations,the detection ratio of-α^(3.7)α/ααinα-thalassemia was the same(both 12.50%).While,the other main types such--^(SEA)/αα、α^(CS)α/ααand-α^(4.2)α/ααhad certain differences.Inβ-thalassemia,CD41-42 and CDI7 were the main genotypes detected in Han and Zhuang.Conclusion:In Liuzhou of Guangxi autonomous region,a-thalassemia is the main type in children,with a detection rate of 68.25%,and--^(SEA)/ααis the most common genotype in mild thalassemia,followed byβ^(CD41-42)/β^(N).The detection rate of moderate to severeα-andβ-thalassemia is relatively high.There are certain differences in the distribution of thalassemia among different ethnic groups.