广州市花都地区育龄人群常见和罕见地中海贫血基因型分析

Genotype Analysis of Common and Rare Thalassemia in People of Reproductive Age in Huadu District,Guangzhou

目的:分析广州市花都地区育龄人群常见和罕见地中海贫血(简称地贫)基因型分布情况,完善该地区的地贫基因库。方法:收集2016年1月至2022年10月在广州市花都区妇幼保健院进行地贫基因检测的全血标本,采用跨越断裂点PCR+导流杂交法检测23种常见地贫基因型,对于怀疑为罕见地贫的样本采用琼脂糖凝胶电泳、珠蛋白测序等方法进行罕见地贫基因型检测。结果:在36 412例受检者中,地贫基因阳性者共16 171例(44.41%),常见型16 057例(44.10%),罕见地贫基因型为114例(0.31%)。检出常见α-地贫10 845例(29.78%),以--^(SEA)/αα最多,-α^(3.7)/αα次之,-α^(4.2)/αα占第三位;检出常见β-地贫4 531例(12.44%),以β^(41-42)/β^(N)最多,β^(654)/^(N)次之,β^(-28)/β^(N)占第三位;共检出α β复合型地贫基因型681种(1.87%),以--^(SEA)/αα复合β^(CD41-42)/β^(N)为最多。检测出罕见α-地贫48例,14种突变型,以融合基因(Fusion gene/αα)最多见;罕见β-地贫52例,共11种突变类型,以β^(SEA-HPFH)/β^(N)最多见。结论:花都地区常见和罕见地贫基因型复杂多样,应该重视罕见地贫基因型的检测。

Objective:To analyze the genotypes distribution of common and rare thalassemia in people of reproductiveage in Huadu district of Guangzhou,enhance the database of thalassemia.Methods:Peripheral blood samples werecollected for genotype analysis in Maternity and Child Health Hospital of Huadu District from January 2016 to October2022.Gap-PCR and Reverse dot blot hybridization were used to detect common thalassemia genotypes.DNA sequencingwas performed in samples suspected of rare genotypes.Results:A total of 16171 subjects were identified as thalassemiacarriers,and the positive rate was 44.41%(16171/36412).The genotypes of 114 cases(0.31%)were rare.A total of10845 cases were identified asα-thalassemia carriers(29.78%),and--^(SEA)/ααwas the most common genotype in thosepeople,followed by-α^(3.7)/ααand-α^(4.2)/αα.A total of 4531 subjects were identified as commonβ-thalassemia carriers(12.44%.).The most common β-thalassemia mutation in the population was β^(41-42)/β^(N),followed by β^(654)/^(N)and β^(-28)/β^(N) total of 681 subjects were identified as aβthalassemia carriers(1.87%),among them --^(SEA)/αα compounded with β^(CD41-42)/β^(N)was the most common genotype.A total of 48 cases were identified as rare a-thalassemia carriers,14 typesof mutations,in which Fusion gene/a a was the most common.A total of 52 cases were identified as rare β-thalassemiacarriers,11 types of mutation,in which β^(SEA-HPFH)/β^(N) was the most common.Conclusion:The thalassemia genotypes inHuadu district are complex and diverse.We should attach great importance to the detection of rare thalassemia genotypes.