Prothrombin Gene Mutation

Prothrombin gene mutation is a condition in which affected individuals produce too much prothrombin protein. The prothrombin protein, which is also called Factor II, helps blood to clot. A prothrombin gene mutation can be dangerous, as a surplus of this protein can lead to hypercoagulation, or excess clotting of the blood.
 
Excess clotting can put patients at risk for developing deep vein thrombosis (DVT). DVT occurs when an abnormal clot develops within a vein, often in the legs. DVT can be dangerous, as clots can travel through the bloodstream and lodge in the lungs, where they can clog the flow of blood and cause pulmonary embolism or stroke.
 
Other Names for Prothrombin Gene Mutation 
Prothrombin gene mutation has several names in the medical community. The condition is sometimes called the following:
  • Factor II mutation
  • prothrombin 20210a mutation
  • prothrombin 20210 mutation.
Though each name is different, they all refer to the same condition.

Prothrombin Gene Mutation Causes

Like most genetic mutations, the prothrombin mutation is inherited. The mutation occurs equally in men and women and has nothing to do with blood type.
 
We all have two sets of genes, one that we get from our mothers and one that we get from our fathers. Thus, a person will have two sets of the gene that can cause the prothrombin mutation. As a result, there are two types of Factor II mutation:
  • If you inherit one mutated prothrombin gene, you have a heterozygous case of Factor II mutation.
     
  • If you inherit the mutated gene from both parents, you have a homozygous case of Factor II mutation. This type of prothrombin gene mutation is rare.
The medical community estimates that about 2 percent of Caucasians in the United States have the heterozygous prothrombin mutation. Only about 0.5 percent of African Americans have prothrombin mutation. The condition is also rare among Asians and Native Americans.

Prothrombin Gene Mutation Diagnosis

Doctors can detect thepresence of the mutated gene through a simple blood test. Your doctor may test you for the condition if a family member has suffered from an abnormal clot, heart attack or stroke or has experienced several miscarriages.
 
Doctors typically use family histories to determine if a blood test for thrombophilia is necessary. The term "thrombophilia" encompasses all conditions that increase a person's risk of developing blood clots. Prothrombin gene mutation is one of several genetic mutations that can cause thrombophilia.
 
Causes of Blood Clots 
Some people have chronic or temporary conditions that may increase their chances of developing abnormal clots. These factors include:
  • cancer
  • hormone replacement therapy
  • inactive lifestyle
  • obesity
  • pregnancy
  • recent surgery
  • smoking
  • use of oral contraceptives.

Prothrombin Gene Mutation Treatment

Although there is no cure for prothrombin gene mutation, addressing lifestyle issues is probably the easiest way to prevent abnormal clotting. Steps you can take to reduce your risk of blood clots include:
  • changing forms of birth control
  • instituting a light exercise regimen
  • quitting smoking
  • wearing support socks.
Of course, it is important that a specific course for change be designed by your doctor. You might have certain risk factors that can prevent you from doing certain activities.
 
Your doctor may also prescribe an anti-coagulant drug. The most common drug is warfarin, which is sold under multiple brand names, including:
  • Coumadin®
  • Jantoven®
  • Marevan®
  • Waran®.
Again, consult your medical provider about these drugs. Dosages vary depending on whether your prothrombin mutation is heterozygous or homozygous.
 
Resources
 
Varga, Elizabeth, M.S. (2006). Bleeding and Clotting Disorders. Retrieved September 21, 2007, from the Net Wellness Web site: http://www.netwellness.org/healthtopics/clotting/
prothrombin.cfm.
 
Varga, Elizabeth, M.S. (2004). Prothrombin 20210 Mutation (Factor II Mutation). Retrieved September 21, 2007, from the American Heart Association Web site: http://circ.ahajournals.org/cgi/content/full/110/3/e15.