海南地区Zeta链蛋白检测在东南亚型α-地中海贫血筛查中的应用价值

Clinical value of zeta globin chains analysis in(--^(SEA)) α-thalassemia diagnosis

目的以α-地中海贫血基因检测结果为标准,探讨Zeta链蛋白检测在α-地中海贫血东南亚缺失型临床筛查中的应用价值。方法随机收集634例EDTA-K2抗凝全血标本,采用酶联免疫法检测人外周血细胞中Zeta链蛋白,同时提取全血DNA,采用多重PCR结合电泳法检测标本α-地中海贫血基因。结果634例全血标本经酶联免疫法检测Zeta链蛋白阳性113例,阴性521例;Zeta链蛋白阳性标本中经基因检测全部确诊为α-地中海贫血东南亚缺失型,阴性中无α-地中海贫血东南亚缺失型。Zeta链蛋白检测α-地中海贫血东南亚缺失型灵敏度为100%,特异度为100%,假阳性率0%,假阴性率0%,阳性试验的预示值100%,阴性试验的预示值100%。结论酶联免疫法检测Zeta链蛋白是一种简便、快速检测α-地中海贫血东南亚缺失型的方法,可用于临床大规模筛查。

Objective： To evaluate clinical value of zeta globin chains in （ - - SEA ） α- thalassemia and taking gene diagnosis as the standard. Methods ： Collecting 634 cases of blood samples anti - coagulated with EDTA - K2. Each sample was screened for zeta globin chains by enzyme linked immuno sorbent assay. At the same time genome DNA was extracted and PCR followed by electrophoresis was used to test α globin gene. Results： Enzyme linked immuno sorbent assay showed that among 634 samples, 113 were confirmed to be zeta globin chains positive, others to be negative. And gene diagnosis proved that all these zeta globin chains positive samples were （ - -SEA） α - thalassemia and zeta globin chains negative samples were not （ - -SEA） α-thalassemia. The sensitivity, specificity, false- positive rate, false -negative rate, positive predictive values and negative predictive values were 100%, 100%, 0%, 0%, 100% and 100% respectively. Conclusion： Enzyme linked immuno sorbent assay for zeta globin chains can test （ - - SEA）α-thalassemia simply and rapidly and is valuable in population screening programs.