血红蛋白电泳在地中海贫血筛查中的应用价值

目的应用血红蛋白(Hb)电泳技术筛查疑似α-或β-地中海性贫血,为地贫基因确诊提供参考价值,对干预地中海性贫血出生缺陷提供有利保障。方法开展Hb电泳,通过电脑扫描系统分析Hb组分的含量,筛查疑似α-或β-地中海性贫血患者。追踪调查基因诊断确诊符合率。结果血红蛋电泳分析报告疑似α-地中海性贫血为126例,疑似β-地中海性贫血为103例。调查基因确诊结果,回顾性对比研究发现,α-地中海性贫血的确诊符合率为73.81%,β-地中海性贫血确诊符合率为80.58%。结论血红蛋白电泳技术在地贫筛查中起到了非常重要的作用,能够定量检测血红蛋白A(HBA)、血红蛋白F(HbF)、血红蛋白A2(HbA2)含量,其结果与基因检测结果符合率高,有效地筛查出地贫携带者及高危育龄夫妇,为进一步进行基因诊断和遗传咨询提供初步诊断依据。

Investigation of clinical value of hemoglobin electrophoresis in the screening of thalassemia.

Objective To investigate the clinical value of hemoglobin electrophoresis in the screening of α - thalassemia and β - thalassemia in order to provide information for genetic diagnosis of thalassemia and prevent birth defects. Methods Hemoglobin electrophoresis was performed. The types and quantities of hemoglobin were then analyzed by computer. Coincidence rate between hemoglobin electrophoresis and genetic diagnosis for α - thalassemia and β - thalassemia patients was investigated. Results Hemoglobin electrophoresis indicated that 126 patients with suspected α -thalassemia and 103 patients with suspected β -thalassemia. Compared with the results of genetic diagnosis, the coincidence rates of α - thalassemia and β - thalassemia were 73.81% and 80.58% respectively. Conclusion Hemoglobin electrophoresis can quantitatively detect HbA, HbF and HbA2, it plays an important role in the screening of thalassemia. Coincidence rate of hemoglobin electrophoresis and genetic diagnosis is high.