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目的探讨在地中海贫血(简称地贫)筛查、地贫基因诊断中存在的一些误区,正确对育龄夫妇做地贫筛查、诊断前后的咨询。方法统计2007年10月-2009年3月在我院优生遗传门诊开展的地贫筛查(包括红细胞脆性、血球分析的MCVMCH、血红蛋白电泳)、地贫基因诊断350例资料,进行分析。结果红细胞脆性筛查敏感度81.63%,但特异度较低,为72.34%,准确度77.06%。单独用血红蛋白电泳筛查地贫敏感度、特异度和准确度均较低,分别为72.88%、75.00%和73.79%,漏筛率达25.00%,但对β地贫、HbH病诊断率较高,并能对其他异常血红蛋白病作出诊断。血球分析的MCVMCH筛查地贫,敏感度93.54%、特异度86.47%和准确度90.86%,漏筛率13.53%;红细胞脆性+血球分析筛查地贫敏感度、特异度和准确度亦较高,分别为91.79%、93.08%和94.27%,但不能对其他异常血红蛋白病作出诊断。血球分析+血红蛋白电泳筛查地贫敏感度、特异度和准确度均高,分别为93.50%、100.00%和95.15%,漏筛率为0。结论不主张单独用红细胞脆性或血红蛋白电泳做地贫筛查;在基层可单独用血球分析的MCVMCH筛查地贫,是个好方法,且易于普及;有条件最好用血球分析+血红蛋白电泳做地贫筛查,敏感度、特异度和准确度均高,并能对其他异常血红蛋白病作出诊断。不论采用哪种地贫筛查方法,夫妇任何一方地贫筛查阳性,都应建议夫妇双方做地贫基因诊断,以明确阳性方的地贫基因类型,排查阴性方的漏筛,避免其后代有中间型或重型地贫的发生。
Objective To explore some misunderstandings in the screening of Thalassemia (thalassemia) and genetic diagnosis of thalassemia, to correctly screen for thalassemia and to consult before and after diagnosis. Methods Statistics from October 2007 to March 2009 in our hospital eugenics outpatient thalassemia screening (including red blood cell fragility, blood cell analysis of MCVMCH, hemoglobin electrophoresis), 350 cases of thalassemia gene diagnosis, analysis. Results The sensitivity of erythrocyte fragility screening was 81.63%, but the specificity was low, which was 72.34% and the accuracy was 77.06%. The sensitivity, specificity and accuracy of hemophilus electrophoresis screening for thalassemia were both low, 72.88%, 75.00% and 73.79%, respectively. The rate of missed screening was 25.00%, but the diagnosis rate of thalassemia and HbH was high , And can diagnose other abnormal hemoglobin disease. The MCVMCH was used to screen thalassemia, the sensitivity was 93.54%, the specificity was 86.47%, the accuracy was 90.86% and the rate of missed screening was 13.53%. The sensitivity, specificity and accuracy of screening erythrocyte fragility and hematology were higher , Respectively, 91.79%, 93.08% and 94.27%, but not for other abnormal hemoglobin disease diagnosis. Hemophilus hemophoreselectrophoresis screening of thalassemia sensitivity, specificity and accuracy were high, respectively, 93.50%, 100.00% and 95.15%, missed the rate of 0 sieve. Conclusion It is not advocated that erythrocyte fragile or hemophilus electrophoresis alone should be used for thalassemia screening. In the grassroots level, MCVMCH alone can be used to screen thalassemia, which is a good method and easy to popularize. It is better to use hemoglobin electrophoresis Poor screening, sensitivity, specificity and accuracy are high, and can diagnose other abnormal hemoglobin disease. Regardless of which thalassemia screening method is used and either side of the couple is positive for thalassemia screening, both husband and wife should be advised to do thalassemia gene diagnosis to determine the type of thalassemia gene in the positive side, to screen the negative side of the missed screen, and avoid their offspring The occurrence of intermediate or heavy thalassemia.