Hyperprothrombinemia

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Hyperprothrombinemia
OMIM 176930
DiseasesDB 32790

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]


Hyperprothrombinemia is a disorder of prothrombin which leads to hypercoagulation.

Substitution of adenine for guanine at position 20210 of the prothrombin gene, known as the prothrombin 20210a mutation, prothrombin 20210 mutation and, less precise, just factor II mutation,[1][2] leads to hypercoagulability and may be a factor that contributes to infertility. Its prevalence is thought to be approximately 2% in caucasians and 0.5% in blacks.[2]

Position 20210 falls outside of the reading frame for the protein and is thought to play a role in promoting prothrombin production; the substitution leads to high levels of prothrombin.[3]

References

  1. Steen CJ. Factor II. eMedicine.com. URL: http://www.emedicine.com/med/topic3494.htm. Accessed on: March 11, 2007.
  2. 2.0 2.1 Varga E, Moll S (2004). "Cardiology patient pages. Prothrombin 20210 mutation (factor II mutation)". Circulation. 110 (3): e15–8. PMID 15262854. doi:10.1161/01.CIR.0000135582.53444.87.  Free Full Text.
  3. Poort S, Rosendaal F, Reitsma P, Bertina R (1996). "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" (PDF). Blood. 88 (10): 3698–703. PMID 8916933. 

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