How common is prothrombin 20210 mutation?

A change in the prothrombin gene is present in 2-4% (or 1 in 50 to 1 in 25) of Caucasians, and is more common in individuals of European ancestry. In the United States, approximately 0.4% (about 1 in 250) of African Americans also have the mutation.

What is prothrombin mutation?

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.

How serious is prothrombin gene mutation?

Having the prothrombin mutation increases the risk of developing a DVT (a blood clot in the deep veins, typically the legs) and/or PE (blood clot that travels to the lungs). DVTs are dangerous because they can damage the veins, leading to pain and swelling, and sometimes to disability.

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.

What happens if you have the prothrombin 20210 mutation?

The prothrombin 20210 mutation is equally as common in men and in women. It has nothing to do with blood type. Having the prothrombin mutation increases the risk of developing a DVT (a blood clot in the deep veins, typically the legs) and/or PE (blood clot that travels to the lungs).

How many copies of prothrombin G20210A increase the risk?

Prothrombin G20210A is a genetic condition that increases the risk of blood clots including deep vein thrombosis and pulmonary embolism. One copy of the mutation increases the risk of a blood clot from 1 in 1,000 per year to 2.5 in 1,000. Two copies increases the risk to up to 20 in 1,000 per year.

What do you call mutation in prothrombin factor 2?

20210 mutation, also called factor II mutation, may have been offered by your doctor because you or someone in your family, has had (1) a blood clot in one of the deep veins of the body (also called deep vein thrombosis or DVT); (2) a blood clot that has traveled to the lung (called a pulmonary embolism or PE);

How many copies of prothrombin increase the risk of blood clots?

Two copies increases the risk to up to 20 in 1,000 per year. Most people never develop a blood clot in their lifetimes. It is due to a specific gene mutation in which a guanine (G) is changed to an adenine (A) at position 20210 of the DNA of the prothrombin gene.