摘要
目的：调查厦门地区地中海贫血基因的携带率、基因突变类型及其频率分布。方法：对2013年1月-2014年8月在该院住院或门诊治疗的患者及健康体检人员共3 715例进行地中海贫血基因检测,对检测结果进行统计分析。结果：检测出静止型α-地中海贫血200例（5.4%）,中间型α-地中海贫血44例（1.2%）,标准型α-地中海贫血1 213例（32.6%）,β-地中海贫血787例（21.2%）,α-合并β-地中海贫血69例（1.8%）。结论：不同就诊对象地中海贫血检出率具有明显差异,血常规是筛查地中海贫血高危孕妇的一个有效手段,但也存在一些缺陷,需引起重视。
Objective： To survey the carrying rate,types of gene mutation,and frequency distribution of thalassemia gene in Xiamen. Methods： Thalassemia gene detection was conducted among 3 715 patients treated in the hospital or in outpatient department of the hospital and healthy cases receiving physical examination,the results were analyzed statistically. Results： Among the cases,200 cases（ 5. 4%） were diagnosed as silent α-thalassemia,44 cases（ 1. 2%） were diagnosed as intermediate α-thalassemia,1 213 cases（ 32. 6%）were diagnosed as standard α-thalassemia,787 cases（ 21. 2%） were diagnosed as β-thalassemia,69 cases（ 1. 8%） were diagnosed as α-thalassemia combined with β- thalassemia. Conclusion： The detection rates of thalassemia among different objects vary,blood routine screening is an effective means for screening high-risk pregnant women,but there are some defects,which should be paid more attention to.
出处
《中国妇幼保健》
CAS
2015年第12期1870-1872,共3页
Maternal and Child Health Care of China
关键词
地中海贫血
血常规筛查
基因诊断
Thalassemia
Blood routine screening
Genetic diagnosis
