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

ATİK, TAHİR; IŞIK, ESRA; Onay, Huseyin; Akgun, Bilcag; Shamsali, Moharram; Kavaklo, Kaan; SEZGİN EVİM, MELİKE; TÜYSÜZ KİNTRUP, GÜLEN; Ozbek, Namik; ŞAHİN, FAHRİ; Salcioglu, Zafer; ALBAYRAK, CANAN; Oymak, Yesim; ÜNAL, EKREM; Belen, Fatma; Yilmaz, Ebru; BALKAN, CAN; Baytan, Birol; Kupesiz, OSMAN; Culha, Vildan; Gucer, Tuba; MERAL GÜNEŞ, ADALET; Ozkinay, Ferda

doi:10.4274/tjh.galenos.2020.2019.0262

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

ATİK T., IŞIK E., Onay H., Akgun B., Shamsali M., Kavaklo K., ...More

TURKISH JOURNAL OF HEMATOLOGY, vol.37, no.3, pp.145-153, 2020 (SCI-Expanded)

Publication Type: Article / Article
Volume: 37 Issue: 3
Publication Date: 2020
Doi Number: 10.4274/tjh.galenos.2020.2019.0262
Journal Name: TURKISH JOURNAL OF HEMATOLOGY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CINAHL, EMBASE, MEDLINE, Directory of Open Access Journals, TR DİZİN (ULAKBİM)
Page Numbers: pp.145-153
Keywords: Hemophilia A, F8 gene, Mutation, Inhibitors, Intron 22 inversion, Turkey, FACTOR-VIII GENE, FACTOR-IX, RECOMMENDATION, INVERSIONS, VARIANTS, GENOMICS, DATABASE
Open Archive Collection: AVESIS Open Access Collection
Akdeniz University Affiliated: Yes

Abstract

Objective: 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.