广西崇左市中学生β珠蛋白生成障碍性贫血及基因突变类型筛查

Screening of β-Thalassemia and Genotype of Middle School Students in Chongzuo City in Guangxi

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-thalassemia in the students of middle school in Jiangzhou region of Chongzuo in order to investigate the carrier ratio and the genotype of β-thalassemia.Methods In May 20-24,2008,1 410 cases students from 3 middle schools in Jiangzhou region were screened β-thalassemia with hemoglobin autoanalyse Variant and Cell Dyn 1700 automatic hemocyte analysator.Among them,696 cases were boys and 714 cases were girls,aged from 12-16 years old.Analysis of blood cells,hemoglobin F（HbF） and hemoglobin A2（HbA2） quantitative detection were done separately.HbA2≥4% was β-thalassemia,then β-thalassemia gene analysis to identify genotype were done.Results One hundred and eight cases were detected β-thalassemia（6 cases were HbE）,the carried ratio was 7.66%.Among the 108 cases,45 cases were CD41-42（41.67%）,21 cases were CD17（19.44%）,11 cases were-28（10.19%）,11 cases were INS-2-654（10.19%）,9 cases were CD71-72（8.33%）,6 cases were CD26（5.56%）,5 cases were INS-1-1（4.63%）.Conclusions The carrier ratio of β-thalassemia in Chongzuo was high.CD41-42 was the most common genotype,followed by CD17,-28 and IVS-2-654.