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Genetic and Rare Diseases Information Center (GARD)

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Prothrombin thrombophilia


Other Names for this Disease
  • Factor II-related thrombophilia
  • Hyperprothrombinemia
  • Prothrombin 20210G>A thrombophilia
  • Prothrombin G20210A thrombophilia
  • Prothrombin-related thrombophilia
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Overview


Prothrombin thrombophilia is an inherited disorder of blood clotting. Thrombophilia is an increased tendency to form abnormal blood clots in blood vessels. People who have prothrombin thrombophilia are at somewhat higher than average risk for a type of clot called a deep venous thrombosis, which typically occur in the deep veins of the legs. Affected people also have an increased risk of developing a pulmonary embolism. However, most people with prothrombin thrombophilia never develop abnormal blood clots. Prothrombin thrombophilia is the second most common inherited form of thrombophilia after factor V Leiden thrombophilia. It is more common in Caucasian populations. This condition is caused by a particular mutation (written G20210A or 20210G>A) in the F2 gene. People can inherit one or two copies of the gene mutation from their parents.[1]
Last updated: 12/5/2011

References

  1. Prothrombin thrombophilia. Genetics Home Reference. August 2008; http://ghr.nlm.nih.gov/condition/prothrombin-thrombophilia. Accessed 8/8/2011.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Prothrombin thrombophilia. This website is maintained by the National Library of Medicine.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Prothrombin thrombophilia. Click on the link to view a sample search on this topic.