Genetic and clinical characterization of factor VII deficiency: insights from 34 Turkish patients

Factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder caused by pathogenic variants in the F7 gene. Clinical manifestations vary widely, ranging from asymptomatic cases to severe bleeding episodes, including gastrointestinal bleeding and intracranial hemorrhage.

This study aims to evaluate the clinical and molecular characteristics of Turkish patients diagnosed with FVII deficiency and explore genotype-phenotype correlations.

A cohort of 34 patients with FVII deficiency was examined. Clinical symptoms were documented, and genetic analysis of the F7 gene was performed to identify pathogenic variants.

A total of 16 different variants were identified, including four novel variants: c.-5_4delTCinsCA, c.686T>C (p.Leu229Pro), c.728T>C (p.Ile243Thr), c.733delA (p.Thr245ProfsTer20). Monoallelic variants were found in 50% of patients, while biallelic pathogenic variants were detected in 20.6%. No pathogenic variants were identified in 29.4% of the patients. There was a poor correlation between FVII activity levels and clinical severity.

This study highlights the importance of molecular diagnostics in the management of FVII deficiency, providing valuable insights into genotype-phenotype relationships. Our findings contribute to the understanding of the genetic diversity and clinical spectrum of FVII deficiency, particularly within the Turkish population.