摘要
目的 探讨高效液相色谱法（HPLC）对于诊断β地中海贫血（β-TM）的临床意义.方法 选择2011年2月至2014年1月,于宜宾市第一人民医院就诊的734例门诊贫血患者为研究对象.采用血常规采血试管采集其血液标本,使用血红蛋白（Hb）电泳、HPLC、聚合酶链反应-反向斑点杂交法（PCR-RDB）对其进行β-TM诊断.本研究遵循的程序符合宜宾市第一人民医院人体试验委员会所制定的伦理学标准,得到该委员会批准,采集血液标本前均经受试对象本人的知情同意,并与之签订临床研究知情同意书.以PCR-RDB为诊断β-TM的金标准,分别与Hb电泳和HPLC诊断该病的灵敏度、特异度和准确度进行统计学分析.结果 本组734例贫血患者经PCR-RDB检测,诊断为β-TM阳性的患者179例,阳性率为24.39％.经Hb电泳检测,诊断为β-TM阳性的患者334例,阳性率为45.50％,检测的灵敏度为98.88％,特异度为71.71％,准确度为78.34％;与PCR-RDB检测法比较,差异有统计学意义（x2=151.10,P＜0.05）.经HPLC检测,诊断为β-TM阳性的患者256例,阳性率为34.88％,检测的灵敏度为99.44％,特异度为85.95％,准确度为89.24％;与PCR-RDB检测法比较,差异有统计学意义（x2=75.05,P＜0.05）.179例β-TM中,PCR-RDB共检出5种突变基因.结论 在β-TM的筛查中,HPLC的灵敏度、特异度及准确度均高于Hb电泳,筛查效果优于Hb电泳,适合用于β-TM的筛查试验.HPLC联合PCR-RDB对β-TM进行确诊,是目前诊断和干预重型β-TM患儿出生行之有效的方法.
Objective To investigate the clinical significance of high performance liquid chromatography （HPLC） in diagnosis of β-thalassemia （β-TM）.Methods From February 2011 to January 2014,a total of 734 outpatients with anemia in First People＆#39;s Hospital in Yibin were collected into this study.Blood collection tubes were used to collect their blood samples.Hemoglobin electrophoresis,HPLC and polymerase chain reaction-reverse dot blot （PCR-RDB） were used to diagnose the 734 blood samples whether they were β-TM or not.The study protocol was approved by the Ethical Review Board of Investigation in First People＆#39;s Hospital in Yibin.Informed consent was obtained from each participate before collecting blood samples.PCR-RDB was used as a gold standard to analyze the sensitivity,specificity and accuracy of hemoglobin electrophoresis and HPLC.Results Among the 734 anemia patients,179 cases were diagnosed as β-TM positive by PCR-RDB and the positive rate was 24.39%.While 334 cases were diagnosed as β-TM positive by hemoglobin electrophoresis and the positive rate was 45.50%.The sensitivity,specificity and accuracy of hemoglobin electrophoresis were 98.88%,71.71% and 78.34% respectively （x2 =151.10,P〈0.05）.256 cases were diagnosed as β-TM positive by HPLC and the positive rate was 34.88%.The sensitivity,specificity and accuracy of HPLC were 99.44%,85.95% and 89.24% respectively （x2 =75.05,P〈0.05）.5 kinds of mutations were detected by PCR-RDB among the 179 patients with β-TM.Conclusions In screening β-TM,the sensitivity,specificity and accuracy of HPLC are higher than hemoglobin electrophoresis.The screening effect of HPLC is better than hemoglobin electrophoresis.So HPLC is suitable for screening β-TM.HPLC combined with PCR-RDB is an effective method of diagnosis and intervention in children with severe β-TM.
出处
《国际输血及血液学杂志》
CAS
2014年第4期307-310,共4页
International Journal of Blood Transfusion and Hematology
