Varaporn AkkarapatumwongSorasak IntorasootSumalee OranwiroonPrapaporn Thano-otarakulParichat Pung-amrittGavivann VeerakulChularatana MahasandanaSakol PanyimPa Thai YenchitsomanusMahidol University2018-09-072018-09-072000-01-01Human mutation. Vol.16, No.6 (2000), 530-531109810042-s2.0-0034546828https://repository.li.mahidol.ac.th/handle/20.500.14594/25890Six frameshift mutations in exon 14 of the factor VIII gene were identified in Thai hemophilia A patients. Although all these mutations created premature stop codons and expected to cause severe disease, the molecular defects and clinical severity were in discrepancy in some patients. Four mutations (delT3490, delACAC3618-21, delGA4429-30, and delA4658) were found in the patients with the severe clinical phenotype while two (delA3629-37 and insA4372-9) were observed in the patients who had moderate severity, with FVIII:C of 4.2 and 2.8%. The frameshift mutations in these two patients were due to deletion and insertion of an 'A' nucleotide in the stretches of 9As and 8As in codons 1191-4 and 1439-41, respectively. This indicates that deletion or insertion in the stretches of poly A nucleotides in exon 14 of the factor VIII gene is a likely cause of the moderate clinical severity in some cases of Thai hemophilia A patients. Copyright 2000 Wiley-Liss, Inc.Mahidol UniversityBiochemistry, Genetics and Molecular BiologyMedicineArticleSCOPUS10.1002/1098-1004(200012)16:6<530::AID-HUMU16>3.0.CO;2-3