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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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What are the signs and symptoms of prothrombin thrombophilia?

The signs and symptoms of this condition depend on whether a person has inherited one or two copies of the F2 gene mutation from his or her parents. A person who inherits one gene mutation is called a heterozygote. Whereas a person that inherits two gene mutations (one from each parent) is considered a homozygote for this condition; although it is very rare to find individuals who are homozygous. An affected heterozygous person usually experiences mild to moderate increase in their thrombin production, which is associated with 2.5 to 3 fold greater risk of developing a venous thromboembolism. There is not enough information about risk in those who are homozygous.[1]

Some research suggests that in women, prothrombin thrombophilia is associated with a somewhat increased risk of pregnancy loss (miscarriage) and may also increase the risk of other complications during pregnancy. These complications may include pregnancy-induced high blood pressure (preeclampsia), slow fetal growth, and early separation of the placenta from the uterine wall (placental abruption). It is important to note, however, that most women with prothrombin thrombophilia have normal pregnancies.[1]
Last updated: 12/5/2011

  1. Prothrombin thrombophilia. Genetics Home Reference. August 2008; Accessed 8/8/2011.