国产ELISA试剂盒检测ξ-珠蛋白链快速筛查α-珠蛋白生成障碍性贫血的性能评价

Evaluation on Capability of Domestic ELISA Kit Screening for Alpha-thalassemias by Detecting Zeta-globin Chain

目的评价国产酶联免疫吸附测定（ELISA）试荆盒检测ξ-珠蛋白链快速筛查a-珠蛋白生成障碍性贫血的性能。方法选择珠蛋白基因型已经基于PCR技术确诊的临床血液标本265份，其中珠蛋白基因型正常93例，静止型a-珠蛋白生成障碍性贫血（-a／aa）22例，东南亚缺失型（--SEA）a-珠蛋白生成障碍性贫血136例，HbH病7例和B-珠蛋白生成障碍性贫血并发（--SEA）a-珠蛋白生成障碍性贫血6例及HbG并发（--SEA）a-珠蛋白生成障碍性贫血1例，采用双盲方式分别用海泰生物技术股份有限公司（简称海泰生物）和美国United Biotech（简称美国UBI）公司生产的固相ELISA试剂盒检测ξ-珠蛋白链筛查a-珠蛋白生成障碍性贫血并以基于PCR技术的诊断结果作为金标准，对这两种ELISA试剂盒筛查a-珠蛋白生成障碍性贫血的性能进行评估。结果海泰生物与美国UBI生产的ELISA试剂盒均能准确地筛出（--SEA）a-珠蛋白生成障碍性贫血、争珠蛋白生成障碍性贫血并发（--SEA）a-珠蛋白生成障碍性贫血和HbG并发（--SEA）a-珠蛋白生成障碍性贫血以及正常血样，但两者既不能筛出静止型a-珠蛋白生成障碍性贫血，也不能完全检出HbH病；检测（--SEA）基因总的灵敏度、特异度、准确度、阴性预测值（NPV）、阳性预测值（PPV）和诊断效率（EDF）（分别为98％，97．5％，98．9％，98％，100％和98．9％）与后者相比（分别为98．7％，98．37％，99．2％，98．7％，100％和99．2％），差异无统计学显著性意义（P均〉0．9）。两者诊断（--SEA）a-珠蛋白生成障碍性贫血的效率均为100％。结论固相ELISA法是一种高度灵敏、高度特异和非常可靠的筛查（--SEA）a-珠蛋白生成障碍性贫血的方法。海泰生物生产的（--SEA）a-珠蛋白生成障碍性贫血ELISA检测试剂盒与同类进口产品相比，具有成本低、需要样品量少的优势，非常适合于地贫高发区大人群的a-珠蛋白生成障碍性贫血筛查。

Objective To evaluate capability of domestic EI.ISA kit screening for alpha-thalassemias by detecting zeta-globin chain. Methods 265 blood samples that genotypes of globin were diagnosed by polymerase chain reaction （PCR） -based technique involved in the study. Of those, 93 normals, 22 silent thalassemias （--a/aa） ; 136 carriers with Southeast Asia dele- tion type （----SEA/aa） （including 21 cases compound iron-difiencency）, 7 samples with HbH diseases,6 （--SEA） a-concurrent B-thal assemia traits and 1 （--__SEA） a-thalassemia concurrent abnormal hemoglobin（Hb）. The solid-phase ELISA kits screening for atpha-thassemia by detecting zeta-globinchain, producted by Haitai Biotechnology limited company （Haitai） and by United Biotech （UBI） were evaluated against PCR：based technique that was taken as an gold diagnostic standard of thalassemias in a double-blind manner. Results In above-mentioned blood samples,both Haitai and UBI were capable of detecting effectively not only normal and cases with （--SEA） a-thalassemia, but also those cases concurrent B-thalassemia trait or abnormal Hb. However,both kits couldn, t screen for HbH disease partly and couldn, t detect single a-globin gene deletion or mutation. There were not significant difference in sensitivity, specificity, accuracy, negative predictive value （NPV） ,positive predictive value （PPV）,efficacy of discriminant function （EDF） （all P〉0. 9） of Haitai kit （98% ,97. 5%, 98.9%,98%,100% and 98.9%,respectively） than that of UBI kit （98.7%,98. 3%,99.2%,98.7%,100% and 99.2%,respectively） for screening for --SEA carrier. The EDFs of both kits for screening for （--SEA） a-thalassemia were 100%. Conclusion The solid ELISA method is a highly sensitive and specific and reliable test for （--SEA） a-thalassemia. Compared with the same kind of imported kit, Haitai ELISA kit was cheaper but more excellent,needs less blood sample. It is suited to large-scale population prenatal screening for a-thalassemia in the area thalassemia prevails.