Back Prothrombinmutation G20210A German Thrombophilie par mutation G20210A du gène de la prothrombine French
| Prothrombin G20210A | |
|---|---|
| Other names | Prothrombin thrombophilia,[1] factor II mutation, prothrombin mutation, rs1799963, factor II G20210A |
| Symptoms | Blood clots[1] |
| Frequency | 2% (Caucasians)[1] |
Prothrombin G20210A is a genetic condition that increases the risk of blood clots including from deep vein thrombosis, and of pulmonary embolism.[1] 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.[1] Two copies increases the risk to up to 20 in 1,000 per year.[1] Most people never develop a blood clot in their lifetimes.[1]
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. Other blood clotting pathway mutations that increase the risk of clots include factor V Leiden.
Prothrombin G20210A was identified in the 1990s.[2] About 2% of Caucasians carry the variant, while it is less common in other populations.[1] It is estimated to have originated in Caucasians about 20,000 years ago.[3][better source needed]
- ^ a b c d e f g h "Prothrombin thrombophilia". MedlinePlus. Retrieved 12 March 2018.
- ^ Cite error: The named reference
RosendaalReitsmawas invoked but never defined (see the help page). - ^ Kniffin, Cassandra L. & McKusick, Victor A. (2012-06-20). Coagulation factor II; F2: .0009 thrombosis, susceptibility to OMIM. Accessed January 23, 2012.[better source needed]