Saovaros SvastiChanikarn BoonchoyPreeda VanichsetakulPranee WinichagoonSuthat FucharoenThe Institute of Science and Technology for Research and Development, Mahidol UniversityMahidol UniversityChulalongkorn University2018-07-122018-07-122008-08-01Annals of Hematology. Vol.87, No.8 (2008), 633-637093955552-s2.0-46949111521https://repository.li.mahidol.ac.th/handle/123456789/19586A β-thalassaemia mutation occurring from insertion of a duplicated 22-bp intron/exon junction of the β-globin gene has been characterised. The repeated 22-bp insertion causes duplication of a 3′ splice site at IVSI/exon 2 junction. Reverse transcription-polymerase chain reaction showed that the proximal 3′ splice site present in the duplicated gene is used, leading to a frameshift and a premature chain termination at codon 37. β-Globin messenger ribonucleic acid (mRNA) transcribed from the mutant gene was not detected, suggesting that the process of nonsense-mediated mRNA decay may be triggered by the premature stop codon. © Springer-Verlag 2008.Mahidol UniversityMedicineArticleSCOPUS10.1007/s00277-008-0479-7