目的了解广州市白云区地中海贫血的发生情况,基因突变类型及构成比,并探讨地贫产前筛查及产前基因诊断的临床意义。方法抽取受检者的静脉血,采用MCV、MCH初筛,对初筛阳性者进行基因检测。携带同型地贫基因的高危夫妇行产前基因诊断,并进行随访。结果 116530个体中,确诊为地贫携带者1642例,其中α-地贫携带者1119例,β-地贫携带者467例,αβ复合型地贫携带者56例,携带率分别为6.77%(1119/16530)、2.83%(467/16530)、0.34%(56/16530);2α-地贫基因型以--SEA/αα最多,占76.77%,β-地贫基因型以CD41-42/N最多,占41.11%;379对夫妇为同型地贫基因携带者行产前诊断,18例胎儿确诊为中间型或重型地贫,经孕妇同意终止妊娠;4随访结果与产前诊断一致。结论本地区是地贫的高发区,对孕妇开展产前筛查和产前诊断可有效防止重型地贫患儿的出生,对提高人口素质有重要意义。 Objective To understand the incidence of thalassemia, gene mutation types and their proportions in Baiyun District, Guangzhou City, and to explore the clinical significance of thalassemia prenatal screening and prenatal diagnosis. Methods The venous blood of the subjects was drawn, and MCV and MCH were used for primary screening. Prenatal genetic diagnosis was carried out in high-risk couples with the same type of thalassemia gene and followed up. Results Among the 116,530 individuals diagnosed with thalassemia, 1,164 were diagnosed as carriers of thalassemia, 1119 were carriers of a-thalassemia, 467 were carriers of β-thalassemia and 56 were carriers of αβ-thalassemia. The carrier rates were 6.77% 1119/16530), 2.83% (467/16530) and 0.34% (56/16530) respectively. The genotypes of 2α-thalassemia was the most with -SEA / αα accounting for 76.77% N was the most, accounting for 41.11%; 379 couples were diagnosed with the same type of thalassemia carriers prenatal diagnosis, 18 fetuses were diagnosed as intermediate or severe thalassemia, pregnant women agreed to terminate the pregnancy; 4 follow-up results consistent with prenatal diagnosis. Conclusions The region is the high incidence area of ​​thalassemia. Prenatal screening and prenatal diagnosis of pregnant women can effectively prevent the birth of children with severe thalassemia. It is of great significance to improve population quality.