摘要
目的 探讨应用血红蛋白毛细管电泳技术对α地中海贫血筛查方案.方法 采用荧光PCR熔解曲线技术对1000例早孕妇女进行α地中海贫血基因诊断,将α地贫基因携带者和正常孕妇分为地贫组和正常组,比较两组孕妇的血红蛋白成分差异.结果 地贫组HbA2均值为1.96,标准差为0.386,HbF均值为0.01,标准差为0.098;正常组HbA2均值为2.79,标准差为0.418,HbF均值为0.01,标准差为0.105.两组间HbA2值的差异有统计学意义（P＜0.05）,HbF值无提示作用.如果取HbA2值＜2.2为α地中海贫血筛查截断值,则α地贫基因携带检出率为9/16,假阴性率为7/16;如果取HbA2值＜2.4为a地中海贫血筛查截断值,则α地贫基因携带检出率为10/16,假阴性率为6/16.结论 血红蛋白毛细管电泳方法对α地中海贫血的筛查效率不及β地中海贫血,但选择一个合理的截断值再组合其他指标仍是临床可接受的筛查方案.
Objective To investigate hemoglobin by capillary zone electrophoresis in α-thalassemia screening application.Methods Blood specimens collected from 1000 early pregnancy women were analyzed by fluorescent PCR technique for αt-thalassemia genetic diagnosis.The samples were divided into thalassemia group and normal group according to the risk of having α-thalassemia related genes.Then compare hemoglobin ingredients difference between two groups.Results In thalassemia group,the mean and standard deviation of HbA2 respectively was 1.96 and 0.386,while HbF respectively was 0.01 and 0.098.In control,the mean and standard deviation of HbA2 respectively was 2.79 and 0.418,while HbF respectively was 0.01 and 0.105.There was significant difference on value of HbA2 among different groups （P 〈 0.05）,but there was no significant difference on value of HbF.If the cut-off value of HbA2 was less than 2.2 in α-thalassemia screening,the detection rate of carrying α-thalassemia gene was 9/16,and false negative rate was7/16.If the cut-off value of HbA2 was less than 2.4,the detection rate of carrying α-thalassemia gene was 10/16,and false negative rate was 6/16.Conclusion The screening efficiency of α-thalassemia is less than β-thalassemia by capillary electrophoresis.But choosing a reasonable cut-off value and combination with other indicators are still clinically acceptable screening program.
出处
《中华实验和临床病毒学杂志》
CAS
CSCD
2015年第1期65-67,共3页
Chinese Journal of Experimental and Clinical Virology
基金
浙江省科技计划公益技术研究社会发展项目（2013C33219）
