The Hemophilia and Thrombosis Center of Nevada

2020 W. Palomino Lane Suite 110

Las Vegas, Nevada 89106

702-385-2702

since May 5, 2008

Last updated May 5, 2008

webmaster RIS

What Is It??  PROTHROMBIN GENE MUTATION 20210

An abnormality in one of the clotting factors has been identified that results in an increased predisposition to the development of blood clots.

Who Knows If They Have It??

The screening test for this defect may be done by a blood sample which is sent to a specialty laboratory.  This sample is tested for Factor II activity level.  The test may not be accurate if you are on coumadin, during vitamin K deficiency, or with severe liver disease.

If the screening test is positive, a level greater than 99%, than a genetic test should be done to confirm the abnormality.  This test is reliable while on treatment with Coumadin.

How Do You Get It??

The Factor II 20210a defect is inherited.  Therefore, there is no cure.   The treatment is aimed at preventing the development of blood clots.  Since it is an inherited disorder, if someone in your family is found to have this abnormality, other family members should be tested to identify if they are at increased risk of developing a blood clot.

What Should You Do About It??

Persons identified at having the 20210a defect are at increased risk of developing blood clots.  Therefore, if a blood clot has already developed blood thinners should be administered.  If you have this abnormality and have never had a blood clot, you should not be treated with long term blood thinners.  Instead, during times when blood clots are more likely to develop, ie: pregnancy, after surgery, blood thinners may be indicated.  Tobacco usage and hormone supplementation may increase the risk of blood clots developing and therefore should be avoided.

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Last modified: March 02, 2008