广州地区儿童β地中海贫血的发生率及基因检测结果分析

The incidence of β-thalassemia and analysis of β-thalassemia gene mutation in children in guangzhou region

目的:调查广州地区儿童β地中海贫血(β地贫)的发生率及其中国人常见突变基因的分布特征。方法:对4990例广州地区儿童进行以全自动凝胶电泳为主的β地贫血液学检查,并利用PCR-RDB法对筛查出的其中177例患儿进行中国人常见18种突变基因的诊断分析。结果:在4990人中检出β地贫562人,发生率为11.26%,其中β0地贫63人,发生率为1.26%,β+地贫499人,发生率为10.0%;进行基因分析的177例有174例得到确诊,共检出10种突变基因,22种基因型,最多见的前5种依次是:CD41-42(45.5%),IVS-Ⅱ-654(26.07%),CD17(13.74%),TATbox-28(8.06%),CD71-72(3.32%),表型中轻型占78.73%(137/174),中间型和重型占21.27%(37/174)。结论:广州地区是国内β地贫发生率较高和基因背景最复杂的地区,在β地贫高发区应加强对儿童人群进行β地贫的血液学筛查和常见基因的诊断。

Objective：To investigate the incidence of β-thalassemia （β-thal） and the distribution of the common β-thal mutations in children in Guangzhou region. Method：Samples from 4 990 children in Guangzhou region were detected for β-thal by means of hematologic examinations, such as fully automatic hemoglobin agarose gel electrophoresis. 177 of the 562 positive samples were diagnosed by PCR-RDB for common 18 β-thal mutations in Chinese. Result： 562 samples were screened among the 4 990 samples, which meant the incidence of β-thal was 11.26%. The incidence of β^0-thal was 1.26% （63 of 4 990） and that of β^＋-thai was 10.0% （499 of 4 990）. In all 177 samples, 10 different β-thal mutations, which made of 22 kinds of genotypes, were identified Among the 174 diagnosed samples. And β-thal minor accounted for 78.73%（137 of 174） as well as β-thal major or intermedia for 21.72% （37 of 174）. The five most common mutations were as follow： CD41-42 （45.5%）, IVS-Ⅱ-654 （26.07%）, CD17 （13.74%）, TATbox-28 （8.06%）, CD71-72（3.32%）. Conclusion：Guangzhou region is one of the area with high risk of β-thal, where the β-thal genetic background is complex in China. It is recommended that more attention should be paid to detect the carriers of β-thal in childhood by hematologic screening and common genic diagnosis in the area with high risk of β-thal