Factor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutations

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dc.contributor.authorAtik, Tahir
dc.contributor.authorEvim, Melike Sezgin
dc.contributor.authorIşık, Esra
dc.contributor.authorBaytan, Birol
dc.contributor.authorAlbayrak, Canan Uçar
dc.contributor.authorKüpesiz, Alphan
dc.contributor.authorKeskin, Ebru Yılmaz
dc.date.accessioned2023-01-12T20:32:11Z
dc.date.available2023-01-12T20:32:11Z
dc.date.issued2020
dc.departmentN/A/Departmenten_US
dc.description.abstractObjective: Hemophilia A (HA) is the most severe X-linked inherited bleeding disorder caused by hemizygous mutations in the factor 8 (F8)gene. The aim of this study is to determine the mutation spectrum of the F8 gene in a large HA cohort from Turkey, and then to establish a phenotype-genotype correlation.Materials and Methods: All HA cases (270 patients) analyzed molecularly in the Ege University Pediatric Genetics Molecular Laboratory between March 2017 and March 2018 were included in this study. To identify intron 22 inversion (Inv22), intron 1 inversion (Inv1), small deletion/insertions, and point mutations, molecular analyses of F8 were performed using a sequential application of molecular techniques. Results: The mutation detection success rate was 95.2%. Positive Inv22 was found in 106 patients (39.3%), Inv1 was found in 4 patients (1.5%), and 106 different disease-causing sequence variants were identified in 137 patients (50.6%). In 10 patients (3.7%), amplification failures involving one or more exonic regions, considered to be large intragenic deletions, were identified. Of 106 different F8 mutations, 36 were novel. The relationship between F8 genotype and inhibitor development was considered significant.Conclusion: A high mutation detection rate was achieved via the broad molecular techniques applied in this study, including 36 novel mutations. With regard to mutation types, mutation distribution and their impact on clinical severity and inhibitor development were found to be similar to those previously reported in other hemophilia population studies.en_US
dc.identifier.doi10.4274/tjh.galenos.2020.2019.0262
dc.identifier.endpage153en_US
dc.identifier.issn1300-7777
dc.identifier.issn1308-5263
dc.identifier.issue3en_US
dc.identifier.startpage145en_US
dc.identifier.trdizinid380846en_US
dc.identifier.urihttps://doi.org/10.4274/tjh.galenos.2020.2019.0262
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/380846
dc.identifier.urihttps://hdl.handle.net/11454/81056
dc.identifier.volume37en_US
dc.indekslendigikaynakTR-Dizinen_US
dc.language.isoenen_US
dc.relation.ispartofTurkish Journal of Hematologyen_US
dc.relation.publicationcategoryMakale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.titleFactor 8 Gene Mutation Spectrum of 270 Patients with Hemophilia A: Identification of 36 Novel Mutationsen_US
dc.typeArticleen_US

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