【摘要】 目的:了解湖南地区地中海贫血基因突变类型及其分布特征,更好的为本地区地中海贫血的产前筛查和产前诊断提供参考依据,降低出生缺陷。方法:选取2017年6月至2018年12月在湖南省妇幼保健院进行婚检、孕检或贫血查因的5 018例患者,采用反向斑点膜条杂交法(RDB)同时检测α地中海贫血常见6种基因型和β地中海贫血常见17种点突变,对检测结果进行统计分析。结果:共检出α地中海贫血基因突变携带者889例(55.9%),其中静止型α地中海贫血385例,轻型α地中海贫血488例,Hb H病16例,以--SEA/αα基因型最常见。确诊β地中海贫血基因突变携带者664例(41.7%),663例(99.8%)为杂合子,以IVS-Ⅱ-654、CD41-42、CD17为主,1例(0.2%)为复合杂合突变。确诊α地中海贫血复合β地中海贫血携带者38例(2.4%)。结论:湖南地区地中海贫血的基因突变构成比具有区域性特征,α地中海贫血以--SEA/αα基因型为主;β地中海贫血以IVS-Ⅱ-654、CD41-42和CD17为主要突变类型;αβ复合型地中海贫血的频率较高。更多还原

【Abstract】 Objective:To investigate the type and distritution of thalassemia gene mutaitons in Hunan area,so as to provide evidence for prenatal screening,diagnosis and reduction of birth defects.Methods:A total of 5018 cases from Maternal and Children Health Hospital of Hunan from June 2017 to Dec 2018 were undergone thalassemia gene mutation analysis.The reverse dot blot hydridization was used to detect 6 kinds of genotypes of α-thalassemia and 17 kinds of point mutations of p-thalassemia,and the detected data were analyzed statistically.Results:889 cases（55.9%）of α-thalassemia carriers were found,including 385 cases of silent α-thalassemia,488 cases of α-thalassemia trait,16 cases of Hb H disease.--^SEA/αα was the most common genotype in α thalassemia.664 cases（41.7%） were diagnosed asβ-thalassemia carriers,heterozygotes accounted for 99.8%（663/664）,IVS-Ⅱ-654,CD41-42 M and CD17 M were the main genotypes,and compound heterozygote accounted for 0.2%（1/664）.38 cases were diagnosed as α-thalassemia combinedβ-thalassemia.Conclusion:The constituent ratio of thalassemia gene mutations in Hunan has regional characteristics,--^SEA/αα is the most common genotype in α-thalassemia carrier.IVS-Ⅱ-654,CD41-42 and CD 17 are common ones inβ-thalassemia.The frequency of α-thalassemia combined with β-thalassemia is high.更多还原