茂名市电白地区地中海贫血患者血液学指标和基因型分析

The analysis of thalassemia genotypes and the related levels of HBG,MCV,MCH in Dianbai area of Maoming City

目的了解茂名市电白地区的地中海贫血检出率和基因型构成,以及不同基因型地贫的血红蛋白(HBG)、平均红细胞体积(MCV)、平均血红蛋白量(MCH)水平,为本地区地贫患者的遗传咨询和产前诊断提供参考。方法抽取16 342例孕前优生检查对象的静脉血,先采用MCV、MCH初筛,对初筛阳性者进行基因检测,α地中海贫血主要检测3种常见基因缺失;β地中海贫血主要检测17个常见基因突变位点。结果检测出α地中海贫血1181例,检出率为6.62%;β地中海贫血491例,检出率为3.00%;α复合β地贫58例,检出率为0.36%;男性患者837例,检出率为5.13%,女性患者793,检出率为4.86%;--SEA/αα型α地中海贫血和CD 41-42/N型β地中海贫血在男、女性患者中比例均最高;不同地贫类型男、女性患者的HBG、MCV、MCH比较差别均有统计意义(P<0.01)。结论茂名市电白地区是地中海贫血高发地区,男性检出率高于女性,--SEA/αα型α地中海贫血和CD 41-42/N型β地中海贫血最为常见。

Objective：To get the incidence of thalassemia and genotype composition,and HBG,MCV,MCH levels of different thalassemia in Dianbai area of Maoming city. Methods：16 342 cases who taken part in the pre-pregnancy health checkup,were screened using MCV,MCH,then thalassemia gene mutations were detected on screening positive peoples. Results：1181 cases were detected α-thalassemia,the incidence was 6.62%;491 cases were detected β-thalassemia,the incidence was 3%;58 cases were detected a combined β-thalassemia,the incidence was 0.36%;male incidence of 5.13%;female incidence was 4.86%.--SEA/αα is the main α-thalassemia type and CD 41-42/N is the main β-thalassemia type in men and women. Compared with normal control group,there is statistical significance of Levels of HBG,MCV,MCH in different thalassemia（P0.01）. Conclusion：Dianbai area of Maoming city is a high incidence area of thalassemia,morbidity rate of male is higher than female,--SEA/αα and CD 41-42/N is namely the most common α-thalassemia and β-thalassemia.