What is the mutation in factor V Leiden?

What is the mutation in factor V Leiden?

Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood. This mutation can increase your chance of developing abnormal blood clots, most commonly in your legs or lungs. Most people with factor V Leiden never develop abnormal clots.

What chromosome is factor V Leiden located on?


SNP: Factor V Leiden
Name(s) Factor V Leiden, Arg506Gln, R506Q, G1691A
Gene Factor V
Chromosome 1
External databases

What is the difference between Factor 5 and Factor 5 Leiden?

What is Factor V Leiden Mutation? Factor V Leiden is a common change in a gene that controls a protein called Factor V. Factor V is a protein involved in blood clotting and the Factor V Leiden gene change (also called mutation) is linked to an increase risk of blood clots.

Why is it called factor V Leiden?

Pulmonary embolism occurs when pieces or fragments of a blood clot – usually from a DVT of the leg – break off and travel to the vessels in the lungs. The mutation is named factor V “Leiden” because it was originally discovered at the University of Leiden in the Netherlands, in 1994.

How common is the Mthfr gene mutation?

MTHFR gene polymorphisms are common worldwide, with an estimated 25 percent of Hispanics and 10 to 15 percent of North American whites having the 677C>T polymorphism in both copies of the gene. Most people with MTHFR gene polymorphisms do not have neural tube defects, and their children are also typically unaffected.

Is Factor 5 Leiden recessive?

Genetic counseling: Factor V Leiden thrombophilia (i.e., predisposition to the development of venous thrombosis) is inherited in an autosomal dominant manner. Homozygosity for the Leiden variant (and a much greater risk for venous thrombosis) are inherited in an autosomal recessive manner.

Should I take aspirin if I have Factor V Leiden?

Though factor V Leiden alone does not seem to raise the risk of arterial clots, something as simple as daily therapy with low-dose aspirin may help prevent a heart attack or stroke in people with factor V Leiden if they have additional risk factors.

Is factor V Leiden mutation an autoimmune disease?

Examples include abnormalities in Protein C, Protein S, Antithrombin, and Prothrombin 20210. Another disorder which leads to increased clotting is the Anti-Phospholipid Syndrome. This is an autoimmune disorder in which one’s own immune system attacks normal anti-clotting mechanisms.

Can I donate blood if I have Factor V Leiden?

People with factor V Leiden may donate blood, platelets or plasma safely, as long as they are not on an anticoagulant such as warfarin. Only a very few medicines prevent people from donating blood.

What foods to avoid if you have MTHFR?

People with MTHFR mutations may want to avoid foods that contain the synthetic form of folate, folic acid — though the evidence is not clear that’s necessary or beneficial. Be sure to check labels, as this vitamin is added to many enriched grains, like pasta, cereals, breads, and commercially produced flours.

What is the life expectancy of someone with Factor V Leiden?

Life expectancy is normal as long as you follow doctor’s protocol when it comes to medication, foods, and lifestyles. Most people with Factor V Leiden have no clots in their lifetime the life expectancy can be a normal one.

How to diagnose factor V Leiden?

The gene for Factor V Leiden can be found in a blood sample. A blood clot in the leg or the arm can usually be detected by an ultrasound examination. Clots can also be detected by X-ray after injecting a substance into the blood to make the clot stand out.

How many people have factor V Leiden?

It is estimated that about 5% (1 out of 20) of Caucasians (white people) have factor V Leiden. It is more common in individuals of European ancestry. In the United States, approximately 1-2% (1 in 100 to 1 in 50) of African Americans, Hispanic Americans and Native Americans also have the mutation. Factor V Leiden is rare in Asians.

How common is factor V Leiden?

Factor V Leiden mutation is the most common inherited predisposition to excessive clotting in the United States and it is most common in the Caucasian population. Between 3 and 8% of U.S. Caucasians carry one copy of the factor V Leiden mutation and about 1 in 5,000 people have two copies of the mutation.