南宁地区琼脂糖凝胶电泳产前筛查地贫16198例结果分析

目的评价琼脂糖凝胶电泳在产前地中海贫血（地贫）筛查中的价值。方法采用琼脂糖凝胶电泳对16 198例外周血或胎儿脐血进行Hb分析,其中4 242例进行地贫基因检测。结果 16 198例检出β地贫1390例,异常Hb 495例,异常Hb病133例,异常检出率12.46%。与基因检测结果比较,电泳筛查β地贫、HbH病和HbCS的灵敏度和特异度为93.57%和96.25%、100%和69.74%及99.64%和62.52%,以HbA2≤2.45%、2.65%筛查α1、α2地贫的灵敏度和特异度分别为68.44%和64.11%、63.81%和52.79%。电泳筛查胎儿脐血α地贫的灵敏度和特异度为89.94%和98.58%,其中对中间型、重型α地贫筛查灵敏度和特异性均为100%。结论广西地区地贫发生率较高,琼脂糖凝胶电泳筛查β地贫的灵敏度和特异度较好,能准确的筛出胎儿脐血中间型、重型α地贫;在胎儿脐血和外周血中筛查轻型和静止型α地贫的灵敏度和特异度差异较大,且胎儿脐血优于外周血。

Analysis on 16 198 cases prenatal screen of Thalassaemia using agarose electrophoresis

Objective:To evaluate the application of agarose electrophoresis in the prenatal screen of thalassemia(thal).Methods: Agarose electrophoresis was used to perform hemoglobin(Hb) electrophoresis for 16 918 cases.4 242 samples were further examined by DNA analysis.Results: Among 16 198 cases,1 390 cases of β thal,459 cases of abnormal hemoglobin and 133 cases of abnormal hemoglobin disease were detected,and the abnormal rate was 12.46%.The sensitivity and specificity that agarose electrophoresis consistent with gene diagnoses for β-thal,HbH disease and HbCS were 93.57% and 96.25%,100% and 69.74%,99.64% and 52.79%.To diagnose α thal 1 and α thal 2 by HbA 2≤2.45% and 2.65%,the sensitivity and specificity were 68.44% and 64.11%,63.81% and 52.79%.The sensitivity and specificity of screening α thal in prenatal umbilical cord blood were 89.94% and 98.58%,and the sensitivity and specificity of agarose electrophoresis for screening osculant and major α thal were 100%.Conclusion: The incidence of thalassemia was high in Guangxi region.The sensitivity and specificity of performing hemoglobin by using Agarose electrophoresis shows great significance to screen β-thal,and it was exact to screen osculant and major α thal in prenatal umbilical cord blood.There was great different to screen other alpha thal in different sample.