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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。
Objective To evaluate the value of agarose gel electrophoresis in the screening of prenatal thalassemia (thalassemia). Methods 16 198 cases of peripheral blood or fetal umbilical blood were analyzed by agarose gel electrophoresis. Among them, 4 242 cases were detected for thalassemia gene. Results Of the 16 198 cases, 1390 cases of β-thalassemia were found, 495 cases of abnormal Hb, 133 cases of abnormal Hb disease and 12.46% of abnormalities. The sensitivity and specificity of β-thalassemia, HbH and HbCS screening by electrophoresis were 93.57% and 96.25%, 100% and 69.74% and 99.64% and 62.52%, respectively, compared with the results of genetic testing. The sensitivity and specificity of HbA2≤2.45% and 2.65% The sensitivity and specificity of detecting α1, α2 thalassemia were 68.44% and 64.11%, 63.81% and 52.79% respectively. The sensitivity and specificity of electrophoresis screening for α-thalassemia in fetal cord blood were 89.94% and 98.58%, respectively. Sensitivity and specificity of screening for intermediate and severe α-thalassemia were both 100%. Conclusion The incidence of thalassemia in Guangxi area is relatively high. The sensitivity and specificity of β-thalassemia screening by agarose gel electrophoresis are good, which can accurately screen the fetal umbilical cord blood type and severe α-thalassemia. The sensitivity and specificity of blood screening for both mild and atypical alpha thalassemia vary widely, and fetal cord blood is superior to peripheral blood.