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The genetics of factor V Leiden thrombophilia are a major component of fully understanding this disorder. This inherited disorder affects blood clotting. This condition is the name of a specific gene mutation that results in a condition referred to as thrombophilia, which is a condition in which blood vessels can become blocked due to an increased tendency to form abnormal blood clots. Patients with this condition are at a risk that is higher than average of developing a type of blood clot known as deep vein thrombosis. This condition is the most common inherited type of thrombophilia. Approximately three to eight percent of people of European ancestry have one copy of this mutation in each cell. Approximately one in 5,000 carry two copies of this mutation. This mutation occurs less frequently in other populations.
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Genetics of this Disorder
Factor V Leiden thrombophilia is caused by a specific mutation in the F5 gene. This gene is responsible for giving the instructions necessary to create a protein known as coagulation factor V, which slows down the process of clotting and prevents blood clots from getting too big.
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Symptoms of this Disorder
The symptoms of this disorder vary among patients. Some patients with this genetic mutation never develop thrombosis, while there are other who will experience recurring thrombosis before their 30th birthday. The symptoms may include:
- Having first deep vein thrombosis or pulmonary embolism prior to age fifty
- Having venous thrombosis in the liver, brain, or other abnormal body sites
- A history of unexplained miscarriage in the second or third trimester
- Having recurring deep vein thrombosis or pulmonary embolism
- Having deep vein thrombosis or pulmonary embolism directly following pregnancy
- Having deep vein thrombosis or pulmonary embolism along with a family history of venous thromboembolism
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Treating this Disorder
Treatment will depend on the patient's individual symptoms and complications. Patients who have had deep vein thrombosis or pulmonary embolism are often prescribed medications, such as anticoagulants, or blood thinners. Patients may also be given such medications during surgery and other high risk periods. Pregnant women are at a very high risk of developing deep vein thrombosis. If a woman with this condition are planning to become pregnant it is crucial they talk to their hematologist and/or obstetrician first. Most women have a normal pregnancy, however, but close monitoring during and following pregnancy is very important. Women with a history of deep vein thrombosis or pulmonary embolism may benefit from being treated with an anticoagulant medication during a later pregnancy to help prevent any recurrent problems.
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Genetics Home Reference. (2010). Factor V Leiden Thrombophilia. Retrieved on September 12, 2010 from Genetics Home Reference: http://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia
National Human Genome Research Institute. (2009). Learning About Factor V Leiden Thrombophilia. Retrieved on September 12, 2010 from the National Human Genome Research Institute: http://www.genome.gov/15015167