1031例广州市育龄人群地中海贫血基因诊断分析

Genotypic analysis on 1031 cases of thalassemia in reproductive population in Guangzhou

目的了解广州市育龄人群中地中海贫血基因突变类型和频率，为优生优育提供参考和指导。方法采用血液学初步筛查地中海贫血高危人群，高效液相色谱法（High Performance Liquid Chromatography，HPLC）鉴别地贫亚型，GAP-PCR和反向斑点杂交技术（Reversedotblot，RDB）诊断d、13地贫基因。结果1249例初筛阳性受检者确诊为地贫1031例，其中α地贫700例，阳性率为7．80％；β地贫288例，阳性率为3．21％；α复合β地贫43例，阳性率为0．48％。结论广州市地中海贫血发生率较高，以——WEA和CD41～42基因型最常见，其α、β地贫基因型分布符合广东省的基本特点，对育龄人群进行地贫筛查和基因诊断对提高当地人口素质有重要意义。

Objective To understand the gene mutation patterns and frequencies of thalassemia for improving birth outcome and child development. Methods Blood examination screened high risk population of thalassemia, Hemoglobin subtypes were detected by HPLC. α -thalassemia and 13 -thalassemia were tested by GAP- PCR and reverse dot blot. Results 1031 cases of 1249 positive samples were diagnosed as thalassemia, including 700 cases （7.80%） of α-thalassemia, 288 cases（3.21%） of β-thalassemia and 43 cases of mixed thalassemia. Conclusions Guangzhou is a region of high-prevalance of thalassemia.SEAand CD41-42 are the most common thalassemia genotypes in Guangzhou city. The characteristics ofα-, β -thalassemia genotype in Guangzhou are consistent with that in Guangdong province. It has significant value by screening the carriers of thalassemia in the public and giving them genetic diagnosis.