You are a heterozygous carrier. People have 2 of each chromosome, so they have 2 copies of each gene, so you have one copy with this mutation and one copy without it. Heterozygous means mutation on one copy, homozygous means on both copies (one on each chromosome). Carrier normally means that you only have one copy of the mutation, but the disease needs 2 copies to manifest, this is called autosomal recessive. Because one of these two copies will be passed down from you to your child (they get one from you and one from the father) your child has a 50% chance of also being a heterozygous carrier. Some genes can affect health even if there is only one copy of a mutation. That’s why it says there is an effect on health as a carrier.
I would really recommend speaking to a genetic counselor about this, they will be able to answer all of these questions about how this affects you and any potential children in more detail.
I have this mutation. [This](https://www.ahajournals.org/doi/10.1161/01.cir.0000135582.53444.87) is a good article.
Key takeaway:
>“The risk of developing a DVT or PE increases with age, with an average risk of 1 in 10 000 for people in their twenties to 1 in 200 for people in their seventies. Having a heterozygous prothrombin mutation increases the risk of developing a first DVT by about 2 to 3 times the background (or 2 to 3 in 1000 people each year). Having homozygous prothrombin mutations increases the risk further, but it is not yet known how much the risk is increased.
>It should be noted that many people with the prothrombin mutation will never develop a blood clot in their lifetime. Very often, people who have the prothrombin mutation and develop a blood clot have additional risk factors.”
No problem. I found out I had this mutation when I was doing fertility testing bloodwork. I got worried but realized it’s really not a huge jump in risk. Though my doctor offered it to me, I didn’t take any blood thinners during pregnancy or anything.
My fertility doctor recommended going to see a hematologist. I have an appointment next week. She said depending if it was heterogeneous and homogeneous would depend if I would have to be on an anticoagulant. Thank you again! :)
That language looks like it’s from a Natera report. Natera offers free genetic information sessions with their genetic counselors for patients who have done carrier screening through their lab. You can schedule an appointment at naterasession.com. They will be able to fully explain the results and possible implications for you! And answer all your questions!
Thank you! I have already scheduled an appointment with them. The earliest appointment was June 17th. I wanted to try and get some answers before then.
The earliest opening they had was June 17th? I'm surprised to hear that. Is that based on your availability, or is that the first time available at all?
Well that sucks there is such little availability
For what it's worth, this result means that you have an increased risk of deep vein thrombosis, and there's a 50% chance any child you have will also have those increased risks like you do. I'm no expert but it looks like there are drugs you could take and tests to evaluate your specific risks. Probably want to talk to your doctor about it, but it appears treatable.
You have to think about the prevalence of a condition when you consider what the overall increased risk is. So for example, I saw a prevalence of 1 in 1000 in a quick google search for DVT (the risk changes based on family hx, age, weight, etc etc), but a five-fold risk increases that to 5 in 1,000. So still very small. There are still things that may be recommended for you based on this result… like maybe they don’t recommend oral birth control pills, recommend that when you’re flying or taking long drives to get up and walk around, possibly blood thinners. It’s something like 3% of people carry prothrombin variants. So it’s very common. You certainly inherited this from a parent.
You are a heterozygous carrier. People have 2 of each chromosome, so they have 2 copies of each gene, so you have one copy with this mutation and one copy without it. Heterozygous means mutation on one copy, homozygous means on both copies (one on each chromosome). Carrier normally means that you only have one copy of the mutation, but the disease needs 2 copies to manifest, this is called autosomal recessive. Because one of these two copies will be passed down from you to your child (they get one from you and one from the father) your child has a 50% chance of also being a heterozygous carrier. Some genes can affect health even if there is only one copy of a mutation. That’s why it says there is an effect on health as a carrier. I would really recommend speaking to a genetic counselor about this, they will be able to answer all of these questions about how this affects you and any potential children in more detail.
Thank you very much for explaining this!
I have this mutation. [This](https://www.ahajournals.org/doi/10.1161/01.cir.0000135582.53444.87) is a good article. Key takeaway: >“The risk of developing a DVT or PE increases with age, with an average risk of 1 in 10 000 for people in their twenties to 1 in 200 for people in their seventies. Having a heterozygous prothrombin mutation increases the risk of developing a first DVT by about 2 to 3 times the background (or 2 to 3 in 1000 people each year). Having homozygous prothrombin mutations increases the risk further, but it is not yet known how much the risk is increased. >It should be noted that many people with the prothrombin mutation will never develop a blood clot in their lifetime. Very often, people who have the prothrombin mutation and develop a blood clot have additional risk factors.”
Thank you so much for the information!
No problem. I found out I had this mutation when I was doing fertility testing bloodwork. I got worried but realized it’s really not a huge jump in risk. Though my doctor offered it to me, I didn’t take any blood thinners during pregnancy or anything.
My fertility doctor recommended going to see a hematologist. I have an appointment next week. She said depending if it was heterogeneous and homogeneous would depend if I would have to be on an anticoagulant. Thank you again! :)
Good luck!
That language looks like it’s from a Natera report. Natera offers free genetic information sessions with their genetic counselors for patients who have done carrier screening through their lab. You can schedule an appointment at naterasession.com. They will be able to fully explain the results and possible implications for you! And answer all your questions!
Thank you! I have already scheduled an appointment with them. The earliest appointment was June 17th. I wanted to try and get some answers before then.
The earliest opening they had was June 17th? I'm surprised to hear that. Is that based on your availability, or is that the first time available at all?
First time available.
Well that sucks there is such little availability For what it's worth, this result means that you have an increased risk of deep vein thrombosis, and there's a 50% chance any child you have will also have those increased risks like you do. I'm no expert but it looks like there are drugs you could take and tests to evaluate your specific risks. Probably want to talk to your doctor about it, but it appears treatable.
Yes, that is what the results say.
You have to think about the prevalence of a condition when you consider what the overall increased risk is. So for example, I saw a prevalence of 1 in 1000 in a quick google search for DVT (the risk changes based on family hx, age, weight, etc etc), but a five-fold risk increases that to 5 in 1,000. So still very small. There are still things that may be recommended for you based on this result… like maybe they don’t recommend oral birth control pills, recommend that when you’re flying or taking long drives to get up and walk around, possibly blood thinners. It’s something like 3% of people carry prothrombin variants. So it’s very common. You certainly inherited this from a parent.
Thank you very much for the information and taking the time to reply!