Prothrombin G20210A

Prothrombin G20210A
Other namesProthrombin thrombophilia,[1] factor II mutation, prothrombin mutation, rs1799963, factor II G20210A
SymptomsBlood clots[1]
Frequency2% (Caucasians)[1]

Prothrombin G20210A is a genotypic trait that provides a prompter coagulation response. It 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 24,000 years ago.[3]

  1. ^ a b c d e f g h "Prothrombin thrombophilia". MedlinePlus. Retrieved 12 March 2018.
  2. ^ Cite error: The named reference RosendaalReitsma was invoked but never defined (see the help page).
  3. ^ Zivelin, Ariella; Mor-Cohen, Ronit; Kovalsky, Victoria; Kornbrot, Nurit; Conard, Jaqueline; Peyvandi, Flora; Kyrle, Paul A.; Bertina, Rogier; Peyvandi, Ferial; Emmerich, Joseph; Seligsohn, Uri (June 2006). "Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24 000 years ago". Blood. 107 (12): 4666–4668. doi:10.1182/blood-2005-12-5158. ISSN 0006-4971. PMID 16493002. S2CID 39934516.