Factor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitors

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dc.contributor.authorFidanci, Inang D.
dc.contributor.authorKavakli, Kaan
dc.contributor.authorUcar, Canan
dc.contributor.authorTimur, Cetin
dc.contributor.authorMeral, Adalet
dc.contributor.authorKilinc, Yurdanur
dc.contributor.authorSayilang, Huelya
dc.date.accessioned2020-03-26T17:26:54Z
dc.date.available2020-03-26T17:26:54Z
dc.date.issued2008
dc.departmentSelçuk Üniversitesien_US
dc.description.abstractFactor VIII (FVIII) replacement therapy is ineffective in hemophilia A patients who develop alloantibodies (inhibitors) against FVIII. The type of factor 8 (F8) gene mutation, genes in the major histocompatibility complex loci, and also polymorphisms in IL-10 and tumor necrosis factor-alpha are the major predisposing factors for inhibitor formation. The present study was initiated to reveal the F8 gene mutation profile of 30 severely affected high-responder patients with inhibitor levels of more than 5 Bethesda U (BU)/ml and four low-responder patients with inhibitors less than 5 BU/ml. Southern blot and PCR analysis were performed to detect intron 22 and intron 1 inversions, respectively. Point mutations were screened by DNA sequence analysis of all coding regions, intron/exon boundaries, promoter and 3' UTR regions of the F8 gene. The prevalent mutation was the intron 22 inversion among the high-responder patients followed by large deletions, small deletions, and nonsense mutations. Only one missense and one splicing error mutation was seen. Among the low-responder patients, three single nucleotide deletions and one intron 22 inversion were found. All mutation types detected were in agreement with the severe hemophilia A phenotype, most likely leading to a deficiency of and predisposition to the development of alloantibodies against FVIII. It is seen that Turkish hemophilia A patients with major molecular defects have a higher possibility of developing inhibitors.en_US
dc.identifier.doi10.1097/MBC.0b013e3282f9b193en_US
dc.identifier.endpage388en_US
dc.identifier.issn0957-5235en_US
dc.identifier.issn1473-5733en_US
dc.identifier.issue5en_US
dc.identifier.pmid18600086en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage383en_US
dc.identifier.urihttps://dx.doi.org/10.1097/MBC.0b013e3282f9b193
dc.identifier.urihttps://hdl.handle.net/20.500.12395/22410
dc.identifier.volume19en_US
dc.identifier.wosWOS:000257927600008en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherLIPPINCOTT WILLIAMS & WILKINSen_US
dc.relation.ispartofBLOOD COAGULATION & FIBRINOLYSISen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.selcuk20240510_oaigen_US
dc.subjectfactor 8 gene mutationen_US
dc.subjecthemophilia Aen_US
dc.subjectinhibitors against Factor VIIIen_US
dc.titleFactor 8 (F8) gene mutation profile of Turkish hemophilia A patients with inhibitorsen_US
dc.typeArticleen_US

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