Name = PAGENAME
DiseasesDB = 32790
OMIM = 176930
Hyperprothrombinemia is a disorder of
prothrombinwhich leads to hypercoagulation.
adeninefor guanineat position 20210 of the prothrombingene, known as the prothrombin 20210a mutation, prothrombin 20210 mutation and, less precise, just factor II mutation, [Steen CJ. Factor II. eMedicine.com. URL: [http://www.emedicine.com/med/topic3494.htm http://www.emedicine.com/med/topic3494.htm] . Accessed on: March 11, 2007.] cite journal |author=Varga E, Moll S |title=Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation) |journal=Circulation |volume=110 |issue=3 |pages=e15–8 |year=2004 |pmid=15262854 |doi=10.1161/01.CIR.0000135582.53444.87 [http://circ.ahajournals.org/cgi/content/full/110/3/e15 Free Full Text] .] leads to hypercoagulabilityand may be a factor that contributes to infertility. Its prevalence is thought to be approximately 2% in caucasians and 0.5% in blacks.
Position 20210 falls outside of the
reading framefor the protein and is thought to play a role in promoting prothrombin production; the substitution leads to high levels of prothrombin. [cite journal |author=Poort S, Rosendaal F, Reitsma P, Bertina R |title=A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis |journal=Blood |volume=88 |issue=10 |pages=3698–703 |year=1996 |pmid=8916933|url=http://bloodjournal.hematologylibrary.org/cgi/reprint/88/10/3698.pdf]
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