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Diseases

Genetic and Rare Diseases Information Center (GARD)

Prothrombin thrombophilia


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

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What kind of tests can determine if an individual has, or is a carrier of, prothrombin thrombophilia?

No clinical signs or symptoms are specific for prothrombin thrombophilia. A confirmed diagnosis of this condition requires specific genetic testing via DNA analysis of the F2 gene, which provides instructions for making the protein prothrombin. The test identifies the presence of a common change (mutation) called 20210G>A.[1] An individual can be a heterozygote (having one mutated copy of the F2 gene) or a homozygote (having two mutated copies).

Most heterozygotes have a mildly elevated plasma concentration of prothrombin (which can be measured in a blood test) that is approximately 30% higher than normal. However, these values can vary greatly, and the range of prothrombin concentrations in heterozygotes overlaps significantly with the normal range. Therefore, plasma concentration of prothrombin is not reliable for diagnosis of this condition.[1]

Individuals interested in learning more about testing for prothrombin thrombophilia should speak with a genetics professional or other healthcare provider.
Last updated: 4/15/2013

References
  1. Jody L Kujovich. Prothrombin-Related Thrombophilia. GeneReviews. March 29, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1148/. Accessed 4/9/2013.


Other Names for this Disease
  • Prothrombin 20210G>A thrombophilia
  • Prothrombin-related thrombophilia
  • Hyperprothrombinemia
  • Prothrombin G20210A thrombophilia
  • Factor II-related thrombophilia
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.