厦门地区2960对育龄夫妇地中海贫血筛查及基因检测结果分析

Thalassaemia screening and genetic testing results in 2960 couples of childbearing age in Xiamen

目的初步了解并分析厦门地区育龄青年地中海贫血（地贫）流行情况及其基因分布特征，为地贫基因诊断、遗传咨询及减少地贫漏诊和误诊提供理论依据。方法对2013年4月至2016年4月来本院进行孕前优生健康检查的2960对育龄夫妇进行血常规、血红蛋白电泳、血清铁、铁蛋白筛查，筛查阳性患者通过“PCR＋膜杂交法”进行地贫基因检测。结果2960对育龄夫妇经血液学筛查结果中阳性共1160例（占19．59％），检出地贫基因携带者408例，占6．89％；其中α地贫基因携带者286例，占4．83％，最常见的地贫基因型为-SEA／α α占全部α地贫基因携带者的74．13％；β地贫基因携带者114例，占1．93％，最常见的地贫基因型为CD41—42（-TCTT）和IVS-2—654（C→T），分别占全部β地贫基因携带者的34．21％和32．46％；α地贫复合β地贫基因携带者8例，占0．14％。结论厦门地区地贫基因突变类型复杂多样，α地贫基因携带者最常见的基因型为-SEA／α α ，β地贫基因携带者最常见的基因型为CD41-42（-TC皿和IVS-2—654（C→T）；对于血液学筛查阳性的人群，进一步进行地贫基因诊断，可避免漏诊误诊，更好的为临床地贫诊断和遗传咨询提供依据。

Objective To initially understand and analyze the prevalence and genetic distribution characteristics of thalassaemia in youths of childbearing age in Xiamen and to provide theory basis for genetic diagnosis, genetic counseling of thalassaemia, and reducing missed diagnosis and misdiagnosis. Methods 2 960 couples of childbearing age who came to our hospital for pregnancy eugenics health check from April, 2013 to April, 2016 were selected as study objects. Their blood samples were collected for screening tests of routine blood, hemoglobin electrophoresis, serum iron, and ferritin; and the positive patients of screening tests would be conducted thalassaemia genetic testing through ＂PCR ＋ nylon membrane hybridization method ＂. Results 1 160 cases （19.59%） out of 2 960 couples of childbearing age had positive results of hematology screening tests; among which, 408 cases of thalassaemia gene carriers were checked out（6.89%）; there were 286 cases of u thalassaemia gene carriers（4.83%）, and the most common thalassaemia genotype was - SEA/act, accounting for 74.13% of the total α thalassaemia gene carriers; there were 114 cases of β thalassaemia gene carriers（1.93%）, and the most common thalassaemia genotypes were CD41-42 （-TCTT） and IVS-2-654 （C→T）, accounting for 34.21% and 32.46% of all the β thalassaemia gene carriers, respectively; there were 8 cases of u combined with 13 thalassaemia gene carriers（0.14%）. Conclusions The gene mutation types of thalassaemia are complicated in Xiamen. The most common type of u thalassaemia gene carriers is --SEA/αα. The most common types of β thalassaemia genecarriers are CD41-42 （- TCTT） and IVS - 2-654 （C → T）. For the patients positive in hematology screening tests, having further thalassaemia genetic diagnosis can avoid missed diagnosis and misdiagnosis, which will better provide basis for clinical thalassaemia diagnosis and genetic counseling.