酶联免疫吸附测定法和血液学分析法筛查缺失型α-地中海贫血的比较研究  

A comparative study on ELISA for embryonic zeta-globin chains and hematological analysis as a screening technique for deletional alpha-thalassemia

作　　者：吴洪秋[1] 周玉球[1] 肖奇志[1] 胡利清[1] 李日红[1] 李文典[1] 

机构地区：[1]珠海市妇幼保健院珠海市医学遗传研究所,519001

出　　处：《中华检验医学杂志》2006年第10期885-888,共4页Chinese Journal of Laboratory Medicine

基　　金：广东省自然科学基金(04101691);广东省医学科研基金(A2003737);珠海市科技计划项目(PC200310072)

摘　　要：目的评价并比较酶联免疫吸附测定(ELISA)法检测胎胚型ζ-珠蛋白链和传统的血液学分析法在诊断缺失型α-地中海贫血(地贫)中的临床诊断价值。方法以双盲试验对287份珠海市妇幼保健院门诊需做血红蛋白(Hb)分析的血样同时采用ELISA法和血液学分析法分别检测--SEA携带者和α-地贫表型,并以基于聚合酶链反应(PCR)技术作为诊断标准,对两种方法筛查--SEA携带者的敏感度、特异度、准确性进行评估并比较其诊断--SEA携带者的临床应用价值。结果ELISA法诊断--SEA携带者总的敏感度、特异度、准确性、阴性预测值和阳性预测值分别为95·0%、100·0%、97·9%和96·5%及100·0%,显著高于血液学分析法的74·4%、96·4%、86·1%、83·5%和90·9%,P均<0·01)。ELISA法不但能有效地检出--SEA携带者,而且还能鉴定出--SEA合并β-地贫特征或异常Hb的个体,且不受缺铁的干扰,但其对HbH病和α-地贫-2和αT-地贫基因携带者的诊断价值不及血液学分析法(P均<0·05)。结论ELISA法对--SEA携带者,特别是--SEA/αα的诊断价值优于传统的血液学分析法,加之该法简便快速、经济实用且易自动化,故非常适合于(--SEA)α-地贫的大样本人群遗传筛查和临床样品的常规检测。Objective To compare the clinical diagnosis value between an enzyme-linked immunosorbent assay （ELISA） for embryonic zeta-globin chains and traditional hematological analysis as a routine screening test for （ --SEA ） α-thalassemia in clinical laboratory. Methods A total of 287 consecutive outpatient blood samples with a request for hemoglobin （Hb） analysis were screened simultaneously for α- thalassemia determinants by EIJSA and hematological analysis respectively. The two methods were evaluated against palymerase chain reaction （PCR）-based technique that was taken as a diagnostic standard of thalassemia in a double-blind manner. Results There were very significant higher sensitivity, specificity, accuracy and negative predictive values as well as positive predictive values of ELISA method （95.0%, 100.0%,97.9%,96.5% and 100.0%, respectively） than those of hematological analysis （74.4%, 96. 4% ,86. 1% ,83.5% and 90. 9% ,respectively） for screening for --SEA carrier（ all P 〈0. 01 ）. The ELISA method was capable of detecting effectively not only the cases with （ --SEA ） α-thalassemia, but also those cases concurrent β-thalassemia trait or abnormal Hb or iron-deficiency （ ID ）. However, it had a lower accuracy than that of hematological analysis in the detecting HbH disease and single α-globin gene deletion and mutation （ beth P 〈 0. 05 ）. Conclusions The ELISA method is a highly sensitive and specific and reliable test for （--SEA） α-thalassemia and is more effective than hematological analysis in detecting this abnormality, but it is less effective than hematological analysis in detecting HbH disease and α-thalassemia-2 and non-deletional thalassemia. The ELISA method is simple to perform, rapid, and applicable to large-scale or population-based screening programs and to a routine diagnostic laboratory.

关 键 词：Α-地中海贫血 珠蛋白类 酶联免疫吸附测定 聚合酶链反应 遗传筛查 

分 类 号：R446.6[医药卫生—诊断学] R55[医药卫生—临床医学]