PCR结合导流杂交技术在育龄妇女α和β地中海贫血诊断中的应用

目的探讨PCR结合导流杂交技术诊断试剂盒在育龄妇女d和p地中海贫血诊断中的应用。方法以平均红细胞体积（MCV）〈80fl筛查出141表型阳性病例，凯普α-和β地中海贫血诊断试剂盒检测地贫。结果检测出80例存在α-地中海贫血，包括9种类型，常见类型为-SEA／α、α-／α-．α42／αα-，其中4例存在两种缺失；53例存在β-地中海贫血，包括11种类型，常见α-地贫基因型B4142、p654、B17、1328，其中2例存在两种突变；5例同时存在α-地贫和β-地贫；13例未检测到缺失或突变；同时还检测出5例MCV〉80fl的α-地中海贫血病例，其中1例合并β-地贫。结论本试剂盒优势为同一基因芯片上进行仅和β地贫的测定，缩短了检测时间，降低检测成本，减少复合地贫漏诊，适合基层实验室用于常见地贫的诊断。但仅能检测常见类型α-和β地贫，具有一定局限性，在出现该试剂无法检测到的地贫基因缺失或突变，而MCV〈80fl时，建议进行缺铁性贫血的筛查和地贫基因序列的检测。

Application of PCR combined with flow-through hybridization technique for alpha and beta thalassemia diagnosis in women of childbearing ageApplication of PCR combined with flow-through hybridization technique for alpha and beta thalassemia diagnosis in women of childbearing age

Objective To explore the application of PCR combined with flow-through hybridization diagnostic kit for diagnosis of alpha and beta thalassemia in women of childbearing age. Methods With the standard of the mean corpuscular volume （MCV） 〈 80fl, 141 cases of positive cases were screened, hybribio thalassemia diagnosis kit was applied for detection of thalassemia. Results 80 cases were detected with α-thalassemia, including 9 types, the common types were -SEA/α、α-/α-.α42/αα-, of which 4 cases were compound deletions; 53 cases with β -thalassemia, including 11 types, common deletion genotypes were β 41-42, β 654, β 17 and β 28, of which 2 cases were compound mutations; there were 5 patients with ot-thalassemia and β-thalassemia cases; 13 eases were not detected with mutation; at the same time, 5 cases of MCV〉80fl were also detected with ct -thalassemia, 1 case combined β -thalassemia within those 5 cases. Conclusion The kit have the advantage of detection for ot - and β -thalassemia in the same chip, shortening the testing time, reducing the cost, reducing misdiagnosis for the compound genotypes, which is suitable for diagnosis of thalassemia. But it can only detect common types of α- and β -thalassemia and have certain limitations. In any case of MCV〈 80fl, if the reagent could not detect thalassemia gene deletion or mutation, iron deficiency anemia screening and globin gene sequences analysis were recommended.