The FV HR2 mutation is a rare genetic change in the Factor V gene. This mutation affects the Factor V protein and disrupts the balance in the blood clotting system. As a result, the risk of blood clots increases and can lead to serious medical problems such as deep vein thrombosis (DVT) and pulmonary embolism (PE). The FV HR2 mutation can be heterozygous or homozygous and is associated with an increased risk of blood clotting.
This mutation can coexist with other Factor V mutations and increase the effect. FV HR2 is inherited in an autosomal dominant manner and, although its clinical effects are similar to those of Factor V Leiden and other Factor V mutations, it is a specifically different genetic alteration.
