Factor V H1299R Mutation Genetic test
Factor V H1299R Mutation
Mutations in the Factor V gene are among the causes for venous thrombosis. Other conditions that are associated with mutations in the Factor V gene are pregnancy complications, such as recurrent pregnancy losses. The most common mutation in the Factor V gene is the Factor V Leiden mutation. Another polymorphism in the Factor V gene, the His1299Arg polymorphism (syn. HR2), has been identified and linked to hereditary thrombophilia.
HR2 polymorphism often is detected in a „compound“ heterozygosy in association with factor-V-Leiden mutation (R506Q). The heterozygous "compound" of mutationen H1299R and Factor-V-Leiden (R506Q) has the same clinical significance like a homozygous Factor-V-Leiden mutation and reveals pathological APC-resistance results.