海口地区89例α-地中海贫血基因型的研究

Study on Genotypes in 89 Patients of α-thalassemia in Haikou Area

为了探讨海口地区α-地中海贫血的基因型和发病情况,作者采用聚合酶链反应(polymerase chain re-action,PCR)技术进行α-地中海贫血基因分型的检测.结果显示,海口地区319例疑诊患者共检出α-地中海贫血为89例,阳性率达27.90%,共检出8种基因型:--SEA/αα(33例)、-α3.7/αα(18例)、-α3.7/-α3.7(3例)、-α4.2/αα(21例)、-α4.2/-α4.2(6例)、-α3.7/-α4.2(5例)、-α3.7/--SEA(1例)和-α4.2/--SEA(2例),以--SEA/αα东南亚缺失型为主.说明海口地区α-地中海贫血发生率较高,应加强地中海贫血的婚前、产前筛查和产前基因诊断等工作,以杜绝重型α-地中海贫血患儿的出生.

To investigate the genotypes and incidence of α-thalassemia in Haikou area,polymerase chain re-action（PCR） was used to detect 319 patients＇ DNA samples.The results showed that 89 cases of α-thalassemia were detected in 319 patients,the positive rate was 27.90%.Eight genotypes were found,including——SEA/αα（33 cases）,-α3.7/αα（18 cases）,-α3.7/-α3.7（3 cases）,-α4.2/αα（21 cases）,-α4.2/-α4.2（6 cases）,-α3.7/-α4.2（5 cases）,-α3.7/——SEA（1 case） and-α4.2/——SEA（2 cases）,and the South-East Asian（SEA） deletion genotype was thought to account for the majority of cases of α-thalassemia.More attention should be paid to the genetic screening and prenatal diagnosis of α-thalassemia in Haikou area.Prenatal diagnosis is the best effective measurement to prevent severe α-thalassemia fetus to be born.