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) identifier identifier identifier

  • 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
  • Bursa Uludag 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.