Helene PuehringerHossein NajmabadiHai Yang LawWalter KruglugerVip ViprakasitSerge PissardErol BaysalAli TaherChantal FarraAmein Al-AliSuad Al-AteeqChristian OberkaninsViennaLab Diagnostics GmbHUniversity of Social Welfare and Rehabilitation SciencesKK Women's And Children's HospitalRudolfstifung HospitalMahidol UniversityHopital Henri MondorGenetics DepartmentAmerican University of Beirut Medical CenterChronic Care Center, HazmiehImam Abdulrahman Bin Faisal university2018-08-242018-08-242007-05-01Clinical Chemistry and Laboratory Medicine. Vol.45, No.5 (2007), 605-61014374331143466212-s2.0-34248219090https://repository.li.mahidol.ac.th/handle/20.500.14594/24207Background: α-Thalassemia is a worldwide disease and considered to be a major public health problem in countries within the so-called thalassemia belt. The complex genetics of α-thalassemias requires diagnostic methods with the capacity to screen rapidly and accurately for common causative mutations. Methods: We developed and validated a reverse-hybridization assay (Alpha-Globin StripAssay) for the rapid and simultaneous detection of 21 α-globin mutations: two single gene deletions (-α3.7; -α4.2), five double gene deletions [ -MED; -SEA; -THAI; -FIL; -(α)20.5], αααanti-3.7gene triplication, two point mutations in the α1 gene (cd 14 G>A; Hb Adana) and 11 point mutations in the α2 gene (initiation cd T>C; cd 19 -G; IVS1 -5nt; cd 59 G>A; Hb Quong Sze; Hb Constant Spring; Hb Icaria; Hb Pakse; Hb Koya Dora; polyA-1; polyA-2). Results: Reliable genotyping of recombinant mutant clones and reference DNA samples was achieved by means of two corresponding test strips presenting parallel arrays of allele-specific oligonucleotides. The entire procedure from blood sampling to the identification of mutations required less than 6 h, and hybridization/detection was manual or automated. The diagnostic potential of this Alpha-Globin StripAssay was carefully evaluated on 272 pre-typed samples in a multicenter validation study. In 96.14% of the cases, StripAssay typing was completely concordant with the reference methods. Conclusions: The Alpha-Globin StripAssay proved to be a fast, easy-to-perform and reliable screening method to identify >90% of α-globin mutations in endemic areas worldwide. ©2007 by Walter de Gruyter.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1515/CCLM.2007.125