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

摘要

目的 评价国产酶联免疫吸附测定(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.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α-珠蛋白生成障碍性贫血(-α/αα)22例,东南亚缺失型(——SEA)α-珠蛋白生成障碍性贫血136例,HbH病7例和β-珠蛋白生成障碍性贫血并发(——SEA)α-珠蛋白生成障碍性贫血6例及HbG并发(——SEA)α-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α-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α-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)α-珠蛋白生成障碍性贫血、β-珠蛋白生成障碍性贫血并发(——SEA)α-珠蛋白生成障碍性贫血和HbG并发(__SEA)α-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α-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％,98.3?％,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)α-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)α-珠蛋白生成障碍性贫血的方法.海泰生物生产的(——SEA)α-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α-珠蛋白生成障碍性贫血筛查.%Objective To evaluate capability of domestic ELISA 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 ( - α/αα) ,136 carriers with Southeast Asia deletion type (--SEA/αα) (including 21 cases compound iron-difiencency) , 7 samples with HbH diseases,6 (--SEA ) α-con-current β-thal assemia traits and 1 (--SEA) α-thalassemia concurrent abnormal hemoglobin (Hb). The solid-phase ELTSAkits screening for alpha-thassemia by detecting zeta-globinchain,producted by Haitai Biotechnology limited company ( Hai-tai) 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 ofdetecting effectively not only normal and cases with (--SEA) α-thalassemia, but also those cases concurrent β-thalassemiatrait or abnormal Hb. However,both kits couldn,t screen for HbH disease partly and couldn,t detect single α-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) α-thalassemia. Com-pared 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 α-thalassemia in the area thalassemia prevails.