【摘要】 目的了解泉州市α和β地中海贫血的基因突变类型及分布情况。方法对2013年12月至2017年3月就诊于我院的适龄夫妇和临床送检的疑诊病例进行基因检测,分析α、β地中海贫血阳性病例的基因突变类型及频率。结果850例疑似病例中460例为地中海贫血,阳性率54.12%。其中257例为α地中海贫血(30.24%),198例为β地中海贫血(23.29%),另有5例为αβ复合型地中海贫血(0.59%)。α地中海贫血以--SEA/αα基因类型为主,β地中海贫血以IVS-Ⅱ-654/N、CD41-42/N和CD17/N最为常见,并检测出3例--THAI/αα和1例αα/αααanti3.7的罕见基因突变类型。结论泉州地区地中海贫血复杂多样性且具有显著的遗传异质性,丰富了本地区的流行病学资料。更多还原

【Abstract】 Objective:To investigate the gene mutation types and spectrum of α and β thalassemia in Quanzhou.Methods:Detected the treatment of school-age couples and clinical cases of suspected cases from December 2013 to March 2017 in our hospital,and analyzed the types and frequencies of mutations in α and β thalassemia positive cases. Results:Among 850 suspected cases 460 cases were positive,with a positive rate of 54.12%. 257 cases were determined with α thalassemia,with a positive rate of 30.24%,and αα/--SEA was the most common. 198 cases were determined with β thalassemia,with a positive rate of 23.29%,and IVS-Ⅱ-654/N、CD41-42/N and CD17/N were the most common. 5 cases were determined with αβ compound thalassemia,with a positive rate of 0.59%. In addition,we detected 3 cases of--THAI/αα and 1 case of αα/αααanti3.7. Conclusion:The thalassemia in Quanzhou area is complex and has significant genetic heterogeneity,which enriches the epidemiological data.更多还原