全自动毛细管电泳技术在筛查地中海贫血中的临床诊断价值

Automated capillary electrophoresis in screening for thalassemia clinical application

目的探讨全自动毛细管电泳技术在地中海贫血筛查中的临床诊断价值。方法选取2008年9月—2012年4月我院筛查的380例患者作为研究对象,分别采用琼脂糖凝胶电泳技术和全自动毛细管电泳技术对地中海贫血进行筛查,以通过PCR基因诊断技术进行确诊的结果为参照,比较两种筛查技术的检出率和血常规检查结果,以明确其临床价值。结果采用PCR基因诊断技术在380例患者中共有108例确诊为地中海贫血。对于α-地中海贫血,全自动毛细管电泳技术的检出率为90.91%,明显高于凝胶电泳技术的检出率65.91%;对于β-地中海贫血,毛细管电泳技术和凝胶电泳技术的检出率分别为94.23%和71.15%,全自动毛细管电泳技术检出率明显高于凝胶电泳技术;地中海贫血的MCV、CH均值相对于异常血红蛋白病HbE、HbCS值稍低,差异有统计学意义(P<0.05)。结论全自动毛细管电泳技术在地中海贫血筛查中检出率高,具有显著的优越性,能够为我国地中海贫血诊断工作提供更有力的技术保障。

Objective To investigate clinical value of automated capillary electrophoresis in screening for thalasse- mia. Methods 380＂patients of obstetrics screening from September 2008 to April 2012 in our hospital were selected as research subjects with respectively agarose gel electrophoresis and automated capillary electrophoresis technique thalas- semia screening investigation. Under conducting genetic diagnosis by PCR confirmed the results as a reference,the twodetection rate of screening techniques were comprised to identify their application value. Results By using PCR gene di- agnostic techniques for diagnosis and found a total of 108 cases of 380 women diagnosed with thalassemia, for the α- thalassemia,automatic capillary el ectrophoresis detection rate of 90. 91%, was significantly higher than the detdction rate of gel electrophoresis 65.91% ,For β-thalassemia, capillary electrophoresis and gel electrophoresis detection rates were 94.23 %, 71.15 % ,and were significantly higher than the automated capillary eleetrophoresis gel electrophoresis~ Mediterranean anemia MCV and MCH mean relative to the abnormal hemoglobin disease HbE, HbCS value were low er. Difference was statistically significant （P〈0.05）. Conclusion Automatic capillary electrophoresis in screening for thalassemia detection rate,with significant superiority to provide more effective technical support to screen for thalasse- mia.