What causes a thrombin gene mutation?

mutations in the protrombin gene, known as factor II mutations, are genetically related, so they are obtained by inheritance. This gene is responsible for the production of prothrombin, which is converted into thrombin in vivo, so this defect is sometimes known as a mutation of a thrombin gene. Thrombin in turn transforms fibrinogen soluble in water into an insoluble molecule, fibrin, which is an essential part of the blood clotting mechanism. Mutations of the thrombin gene genes are the second largest risk factor for the development of thrombosis or deep blood clots inside the blood vessels, besides mutation of the factor V. Mutation of the thrombin gene is an autosomal dominant mutation, which means that a person with one copy of a mutation has a 50 % chance to pass it on to his children. Men and women as well as persons of any blood type are exposed to the same risk of dismay thisgene and related risk of thrombosis if so. About 1-2 percent of the Caucasian population is heterozygous for mutation of factor II, which means that these people have one copy of a defective gene. The prevalence rate is much lower in people of other racial backgrounds.

When this mutation is inherited, it slows down the degradation of the RNA Protrombin Messenger, increasing the production of prothrombin, leading to a larger amount of thrombin in the blood. The clotting process may occur much more easily because the excess thrombin has been involved in the cascade of fibrin formation, which can end in thrombosis. The thrombinmutation of the gene increases the risk of thrombosis deep veins about two to three times. There are also other health risks from increased levels of thrombin, especially repeating abortion.

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Mutation of the thrombin gene gene increases the risk of thrombosis, but it does not necessarily mean that one develops this disorder. There are other risk factors that mayIncrease the chances of thrombosis, especially with a mutated copy of the gene. These risk factors include the use of oral contraceptive agents, inheritance of other genetic mutations known as mutations of factor V, pregnancy, cigarette smoking, obesity or the remaining immobile for a long time.