What kind of mutation is factor V Leiden?

What kind of mutation is factor V Leiden?

Factor V Leiden (FAK-tur five LIDE-n) is a mutation of one of the clotting factors in the blood.

How often does Leiden mutation occur in Australia?

Factor V Leiden mutation is common – it occurs in about 1 in every 20 – 25 people in Australia.

What to do if you have factor V Leiden?

Women who carry the factor V Leiden mutation may have an increased tendency to develop blood clots during pregnancy or when taking the hormone estrogen. If you have factor V Leiden and have developed blood clots, anticoagulant medications can lessen your risk of developing additional blood clots and help you avoid potentially serious complications.

What are the factors that increase the risk of Leiden?

Factors that increase this risk include: Two faulty genes. Immobility. Estrogens. Surgeries or injuries. Non-O blood type.

What are the non genetic risk factors for Leiden thrombophilia?

Non-genetic risk factors include surgery, long periods of not moving (like sitting on a long airplane ride), birth control pills and other female hormones, childbirth within the last 6 months, non-O blood group, cancer, and injuries (such as bone fractures). [1] [2] [3] [4]

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.

What happens when protein C binds to factor V Leiden?

Factor V Leiden. With this mutation, protein C, an anticoagulant protein (which normally inhibits the pro-clotting activity of factor V), is not able to bind normally to Factor V, leading to a hypercoagulable state, i.e., an increased tendency for the patient to form abnormal and potentially harmful blood clots.

Is it possible to have two abnormal Leiden genes?

Sometimes both parents pass factor V Leiden to their offspring, making it possible to have two abnormal genes. If this applies to you, then you are homozygous for factor V Leiden, and 100% of your factor V is the abnormal Leiden variant. How Is the Diagnosis Made?