Genes For Factor 5
David T. Miller, M.D., Ph.D. is a clinical geneticist at Children's Hospital, Boston and an Instructor at Harvard Medical School. He is also Assistant Director of the DNA Diagnostic Laboratory at Children's Hospital.
Question:
If someone has both genes for Factor V, would all their siblings have it also? What about their children?
Answer:
Factor 5 is a protein that is important for forming blood clots.
People usually have two copies of the Factor 5 gene. Sometimes the Factor 5 gene has a change in it called "Factor 5 Leiden." This change causes the protein to be overactive. An overactive Factor 5 protein increases the risk of forming blood clots too easily.
A person with one normal Factor 5 gene and one Factor 5 Leiden gene (we call this combination "heterozygous") has only a slight increased risk of a blood clot. A person with two Factor 5 Leiden genes (this combo is called "homozygous") has a much higher risk of clotting.
You asked about a person who has both genes for Factor 5 Leiden. In most cases, the mother and father of this person will each have one normal gene and one Factor 5 Leiden gene.
The brothers or sisters of this person might have:
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Two copies of the Factor 5 Leiden gene (a 25% chance)
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One copy like the parents (a 50% chance)
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Two normal Factor 5 genes (a 25% chance)
You also asked about the children of a parent who has two copies of Factor 5 Leiden. Each child has a 100% chance of having at least one copy of Factor 5 Leiden. The chances are even higher if the other parent carries a Factor 5 Leiden gene. In that case, a child could get one copy of Factor 5 Leiden (50% chance) or two copies of Factor 5 Leiden (50% chance).
This gives you some idea of the risks to family members. But the only way to know if each person has a risk is for them to be tested for the Factor 5 Leiden gene. Having one copy of the Factor 5 Leiden gene is not a big risk, so it makes sense to test only the people who are at risk of having two copies. To help you understand who should get tested, talk to a medical professional who is familiar with genetic testing, such as a genetic counselor or medical geneticist.
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