地中海贫血筛查与基因检测结果分析

目的探讨广东省惠州市惠城区人群地中海贫血的发生率及基因突变构成比分析。方法采用深圳迈瑞公司生产的BC-5380全自动血球计数仪测定红细胞平均体积（MCV）、镜下观察红细胞形态、美国Helena公司生产的spire3000血红蛋白电泳仪综合进行血红蛋白分析，基因确诊采用美国ABI公司生产的7500 PCR仪，PCR法或PER—RDB技术进行基因确诊分型。结果在5643例产检人群中，检出α地贫表型阳性1563例，阳性检出率是27．7％，经基因确诊699例α地贫。检出β地贫表型阳性254例，阳性检出率4．50％，经基因确诊250例β地贫。结论经过具体数据分析获得惠州市惠城区人群的地贫基因携带率以及基因突变类型的分布情况，这样能为产前检查提供科学参考。

Analysis of results of screening and genetic testing of thalassemia

Objective To explore and analyze the incidence and constituent ratio of mutation of thalassemia of Huicheng population in Huizhou city of Guangdong province. Methods All specimens were detected the mean corpuscular volume （MCV） of blood cell by BC -5380 automatic count determination, which produced by Shenzhen Mindray. And the morphology of red blood cells was observed. Comprehensive analysis of the hemoglobin were detected by spire3000 hemoglobin electrophoresis,whieh produced by U. S. Helena. The PCR or PCR-RDB technologies were used for gene diagnosis by the United States ABI 7500 PCR instrument. Results A total of 5643 prenatal crowd were detected. 1563 cases were α thalassemia and the positive rate was 27.7% and 699 cases were genetically diagnosed. 254 cases were β thalassemia and the positive rate was 4. 50% and 250 cases were genetically diagnosed. Conclusion The rate of carriers and distribution of mutation genotype of thalassemia of Huicheng population in Huizhou city were acquired by specific data analysis, which can provide scientific reference for prenatal examination.