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目的对广西崇左市江州区中学生进行β珠蛋白生成障碍性贫血(地贫)筛查,了解β地贫基因检出率和β地贫基因突变类型。方法2008年5月20-24日采用Cell Dyn 1700全自动血细胞分析仪和Hb自动分析仪-VARIANT对崇左市江州区3所中学1 410例学生进行β地贫筛查。其中男696例,女714例;年龄12~16岁。分别进行血细胞分析、HbF(HbF)和HbA2定量检测。HbA2≥4%为β地贫,并行β地贫基因分析,以明确基因突变类型。结果在1 410例学生中检出β地贫108例(其中6例为HbE),检出率7.66%。108例β地贫中基因突变类型分别为CD41-4245例(41.67%)、CD1721例(19.44%)、-28有11例(10.19%)、IVS-2-654 11例(10.19%)、CD71-729例(8.33%)、CD266例(5.56%)、IVS-1-1 5例(4.63%)。结论广西崇左市β地贫基因携带率高,基因突变类型以CD41-42最为常见,其次为CD17、-28和IVS-2-654。
Objective To screen β-globin aplastic anemia (TB) in middle school students in Jiangzhou District of Chongzuo City of Guangxi for understanding the detection rate of β-thalassemia gene and the type of β-thalassemia mutation. METHODS: From May 20 to May 24, 2008, a total of 1 410 students from 3 middle schools in Jiangzhou District of Chongzuo City were enrolled in the β-thalassemia series using Cell Dyn 1700 automatic hematology analyzer and Hb automatic analyzer-VARIANT. Among them, 696 males and 714 females were aged 12 to 16 years old. Hemocyte analysis, quantitative detection of HbF (HbF) and HbA2 were performed respectively. HbA2 ≥ 4% for β thalassemia, parallel β thalassemia gene analysis to identify the type of gene mutation. Results Among 1 410 students, 108 cases of β-thalassemia were found (6 cases were HbE), the detection rate was 7.66%. Among the 108 cases of β-thalassemia, the gene mutation types were CD41-4245 (41.67%), CD1721 (19.44%), - 28 (10.19%), IVS-2-654 -729 cases (8.33%), CD266 cases (5.56%) and IVS-1-15 cases (4.63%). Conclusion The prevalence of β-thalassemia gene in Chongzuo, Guangxi is high. The gene mutation type is CD41-42, followed by CD17, -28 and IVS-2-654.