血红蛋白电泳在地中海贫血筛查中的应用价值

刘炳 蒋淼路 郑凡 江燕红

【摘 要】

目的：应用毛细管血红蛋白电泳技术筛查疑似地中海贫血患儿，为查找贫血原因提供参考价值。提高地中海贫血患儿生存质量和预后治疗提供有力保障。

方法 选取134例贫血患者作为研究组，选取50例非贫血健康者作为对照组。开展血液常规分析、血红蛋白各组分定量检测、地中海贫血相关基因检测，并以基因检测为确诊实验。计算各方法的灵敏度、特异度、阳性预测值、阴性预测，对比两组数据的检测结果，选择适合各级医疗机构开展的地中海贫血实验的筛查方法。

结果：134例标本中，血液常规分析异常109例、阳性率为81.3%、敏感性为100%、特异性为39.7%、阳性预测值为57.8%、阴性预测值为100%；血红蛋白电泳异常占83例、阳性率为61.9%、敏感性为100%、特异性为80.9%、阳性预测值为75.9%、阴性预测值为100%；基因实验阳性占63例，阳性率为47%。

结论 全自动毛细管电泳技术具有自动化程度高、检测结果准确快速，符合基因诊断，且方便快捷简单等，值得大力推广。

【关键词】毛细管电泳 ；地中海贫血 ； 基因确诊

Abstract Objective：

Purpose Applying the technology of capillary hemoglobin electrophoresis to screening children suspected of thalassemia， providing reference value for finding out the cause of anemia. To improve the quality of life and prognosis of children with thalassemia to provide effective protection.

Method Select 134 patients with anemia as study group and 50 cases of non-anemia healthy persons as control group. Carry out routine blood analysis， quantitative determination of hemoglobin components， detection of genes associated with thalassemia， and using gene detection as a diagnostic test. Calculate the sensitivity， specificity， positive predictive value， negative predictive value of each method， compare the results of two groups of data， select screening Methods：suitable for thalassemia experiments conducted by medical institutions at all levels.

Result： in the 134 specimens， there were abnormal 109 cases of routine blood analysis， the positive rate was 81.3%， the sensitivity was 100%， the specificity was 39.7%， the positive predictive value was 57.8%， negative predictive value was 100%； there were abnormal 83 cases of hemoglobin electrophoresis， the positive rate was 61.9% and the sensitivity was 100%， the specificity was 80.9%， the positive predictive value was 75.9%， negative predictive value was 100%； there were 63 cases of positive gene experiment， The positive rate was 47%.

Conclusion： Automatic capillary electrophoresis is worth popularizing not only with high degree of automation， accurate and fast results but also conforms to genetic diagnosis， conveniently， quickly and convenient， etc.For worth promoting.

Key words： Capillary electrophoresis；Thalassemia；genetic diagnosis

【中圖分类号】 R249

【文献标识码】 A

【文章编号】 1672-3783（2019）02-03-153-01

贫血是儿科常见疾病之一，若不引起充分的重视，会导致一系列的严重后果，从而影响生长发育。因此对于临床小儿贫血的诊断相当关键，查找贫血原因，对贫血对因治疗尤为重要，其中地中海贫血临床表现无明显的特异性，主要表现为黄疸、肝脾肿大、发育不良等，极严重者可能引发死亡[1]。临床诊断较困难，主要依据实验室诊断。随着精准医疗的发展与进步，对临床诊疗越来越提出严苛的要求，为提高临床诊断效率，全自动毛细管电泳技术应运而生。虽然目前用于明确诊断地中海贫血的是PCR技术结合分子生物学方法[2]，由于分子生物学技术要求高，价格昂贵等，不利于大面积人群筛查[3]；血红蛋白分析仪难以检出异常血红蛋白病[4]。因此本文研究毛细管电泳技术从而筛查出地中海贫血患者，以利于其在以后的医学诊断和预后观察中起重要作用。现将本研究结果汇报如下。