What chromosome is factor V Leiden on?

Factor V Leiden is the most common hereditary hypercoagulability (prone to clotting) disorder amongst ethnic Europeans….Pathophysiology.

Is factor V Leiden a genetic test?

Factor V Leiden and prothrombin 20210 (PT 20210 or Factor II mutation) are genetic mutations that are associated with an increased risk of developing inappropriate blood clots. These mutations are tested by two separate tests that evaluate a person’s DNA to look for the mutations.

How do you diagnose factor V Leiden?

Your doctor may suspect factor V Leiden if you’ve had one or more episodes of abnormal blood clotting or if you have a strong family history of abnormal blood clots. Your doctor can confirm that you have factor V Leiden with a blood test.

What do you need to know about factor V Leiden?

Factor V Leiden. Overview. 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.

Is the factor V Leiden mutation incomplete penetrance?

Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease.

Who are heterozygotes with Factor V Leiden thrombophilia?

People with one copy of the mutation are called heterozygotes. Assuming this person and a person without the mutation have a child, this couple would have a 50%, or 1 in 2 chance of having a child with a single F5 mutation. Factor V Leiden thrombophilia is a relatively common condition. In some families, both parents have the F5 mutation.

Why do some people have a different form of factor V?

Factor V is a protein that is needed for blood to clot properly. Some people do not have the normal Factor V protein. Instead, they have an different form called Factor V Leiden. This is caused by a change (mutation) in the gene for this protein.