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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Prothrombin thrombophilia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Autosomal dominant inheritance -
Cerebral venous thrombosis -
Childhood onset -
Deep venous thrombosis -
Pulmonary embolism -
Recurrent thrombophlebitis -
Thromboembolism -

Last updated: 8/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


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


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