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Factor 5 blood clotting disorder

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Thrombophilia, an increased tendency to form abnormal blood clots that can obstruct blood vessels, is caused by an inherited disorder of blood clotting known as Factor V Leiden thrombophilia. This disorder is characterized by a specific gene mutation called Factor V Leiden.

Individuals with factor V Leiden thrombophilia are at a heightened risk of developing deep venous thrombosis (DVT), a type of blood clot that commonly occurs in the legs but can also affect other areas such as the brain, eyes, liver, and kidneys. Additionally, this condition increases the likelihood of clots breaking away from their original location and traveling through the bloodstream, potentially leading to pulmonary emboli in the lungs. However, it is important to note that only a small percentage (around 10%) of those with the factor V Leiden mutation will experience abnormal clotting.

Factor V Leiden can affect both genders. However, women who possess the mutation may experience a higher likelihood of developing blood clots while pregnant or using estrogen hormone therapy.

Factor V Leiden thrombophilia is caused by a specific mutation in the F5 gene, which is responsible for producing coagulation factor V. This protein is essential in the coagulation system, a sequence of chemical reactions that results in the formation of blood clots following an injury.

Several proteins, including activated protein C (APC), regulate the coagulation system. APC's role is to deactivate coagulation factor V, which slows down clotting and prevents excessive clot growth. However, individuals with factor V Leiden thrombophilia cannot have their coagulation factor V inactivated by APC as it normally would. This leads to a prolonged activation of the clotting process, increasing the likelihood of abnormal blood clot formation.

Follow the link of the selected polymorphism to read a brief description of how the selected polymorphism affects Blood clotting disorders and see a list of existing studies.

SNP polymorphisms related to the topic Blood clotting disorders:

rs2289252The rs2289252 F11 polymorphism is associated with the risk of venous thrombosis.
rs5918The A2 allele of the platelet-specific alloantigen system is encoded by rs5918(C), it is associated with increased risk of myocardial infarction, heart disease and resistance to the blood thinning properties of aspirin.
rs9923231Polymorphism responsible for the level of sensitivity to warfarin (vitamin K antagonist).
rs7294Polymorphism responsible for the level of sensitivity to warfarin (vitamin K antagonist).
rs2359612Polymorphism responsible for the level of sensitivity to warfarin (vitamin K antagonist).
rs9934438Polymorphism responsible for the level of sensitivity to warfarin (vitamin K antagonist).
rs2884737Polymorphism responsible for the level of sensitivity to warfarin (vitamin K antagonist).
rs267606981Partial protein-S deficiency
rs769900251Partial protein C deficiency - increased risk of blood clotting problems.
rs774572099Partial protein C deficiency - increased risk of blood clotting problems.
rs121918481Increased risk of dysprothrombinaemia. Prothrombin Chemo 1.
rs1799963G20210A mutation of the prothrombin F2 gene. 6.74-fold risk of thrombosis
rs17708472Epoxidoreductase gene variations affecting biochemical indicators of vitamin K status.
rs1800775
rs2731672
rs2036914
rs1801020
rs1613662
rs13146272
rs699664
rs12340895
rs121918145
rs121918476
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