Genetic Analysis of a Family With Hereditary Factor V Deficiency Induced by Compound Heterozygous Variants (IVS24+3A>T and p.Asp2222Gly)

Key Points

• This research aims to investigate the genetic basis of hereditary factor V deficiency in a family with compound heterozygous variants.
• Analyzed genetic variants in a family with hereditary factor V deficiency
• Identified and described compound heterozygous variants (IVS24+3A>T and p.Asp2222Gly)
• Evaluated the impact of these variants on clinical phenotype and function
• Two compound heterozygous variants were identified in the F5 gene
• IVS24+3A>T is a novel splice-site variant reported for the first time
• These genetic alterations contribute to the clinical presentation and functional impact observed.

Abstract