What is prothrombin G20210A?
Prothrombin gene mutation (or Factor II mutation or Prothrombin G20210A) is an inherited condition that increases your predisposition to develop abnormal blood clots in the veins (deep vein thrombosis or DVT) and lungs (pulmonary embolism or PE).
Why does prothrombin G20210A increase the risk of thrombosis?
Prothrombin G20210A and the tendency to develop blood clots People who have a mutation in the prothrombin gene produce more prothrombin protein than is normal. Since there is more of the prothrombin protein in the blood, this increases the tendency to form clots.
What is the prothrombin gene?
The Prothrombin Gene Mutation is a change in the gene that controls a blood clotting protein that circulates in the blood called prothrombin. This particular gene change leads to an increase in the level of this protein in the blood.
What is prothrombin thrombophilia?
Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels.
How is prothrombin thrombophilia inherited?
Prothrombin-related thrombophilia is inherited in an autosomal dominant pattern. All individuals inherit two copies of each gene . Autosomal means the gene is found on one of the numbered chromosomes found in both sexes.
How is factor 2 treated?
Treatment for bleeding episodes may include infusions of prothrombin complex, a mixture of factor II (prothrombin) and other clotting factors, to boost your clotting ability. Infusions of fresh frozen plasma (FFP) have been used in the past. They are less common today, thanks to lower-risk alternatives.
What would be the effect of a mutation in the gene encoding prothrombin?
The prothrombin 20210a mutation involves the substitution of an adenine for a guanine at position 20210 within the 3′ untranslated region of the prothrombin gene. This mutation alters the polyadenylation site of the gene and results in increased mRNA synthesis, with a subsequent increase in protein expression.
What is the gene mutation that causes blood clots?
Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. Most people with factor V Leiden never develop abnormal clots.
What causes prothrombin deficiency?
Prothrombin deficiency can be caused by changes ( mutations ) in the F2 gene . The F2 gene provides instructions to the body to make a protein called prothrombin. Prothrombin helps the body make blood clots in response to injury.