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 is changed to an adenine 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.