MTHFR A1298C and Prothrombin G20209T Mutations

[HandyJane]

I am 36 YO. I've had 2 M/Cs in 2 years. First one at 8 wks, and two months ago at 17 wks. I am heterozygous (1 copy) for both MTHFR A1298C and Prothrombin G20209T gene mutations. My doc says this is a very rare combination. Is there anyone else out there with this combo?? I saw a Hemotologist who says its up to my OB how to treat this, but I cannot try again without knowing more. BTY, I tested negative for Factor V Leiden, G20210A and MTHFR C677T. Good or bad, I'd love to hear your experiences.
Thx.

[HandyJane]

Also, another good reference is: http://www3.fertilethoughts.com/forums/forumdisplay.php?s=&daysprune=100&f=160

This site is not that easy to navigate, but if you find your way to the Infertility Forum, then Genetic Issues. Lots of posts about MTHFR. Knowledge is power!

[HandyJane]

Hmm. My 2nd mis was in Aug, and My MTHFR was dx just after that. I have been giving blood weekly while Dr has been monitoring levels...but I am supposed to see her TODAY for a final decision on treatment. I am jsu DYING to find out whats going on. My prothrombin aka Factor II, is oddly enough another minor/ often untreated asymptomatic clotting disorder. But, from what I know right now my homocysteine levels are abnormally low. So, to me it just doesnt add up. I dont have any natural children, but am lucky to have two loving steps. We have decided if Dr says is treatable, we will try again. But interestingly, you say that MTHFR may not have caused your misses, because you have other children. But I have read, many, many posts by women who have unproblematic pregnancies, then just start to mis and are later dx with MTHFR or Prothrombin mutations. Have you visited "http://mthfr.proboards49.com/index.cgi?" ? Lots of very informed women. Check it out. Good luck to you!

[waitn2b]

Hi, my 2nd miscarriage just happened in September and this MTHFR was just discovered about a month ago. My doctor thinks that this was coincidental and not the cause of the miscarriages because my homocysteine levels are normal. She says that it is the homocysteine levels that are important, not the MTHFR. According to her, the heterozygous mutation is not usually associated with elevated homocysteine levels and therefore does not need to be treated except during pregnancy, and only because pregnancy is a period of pro-clotting and thickening of the blood. She says in my next pregnancy she will treat me with mega doses of folic acid and aspirin. I am not familiar with the Prothrombin gene mutation you have. I'm assuming it causes excess clotting ? Has your doctor or the hematologist said this was the cause of your miscarriages ? I have been reading a lot lately and it seems that women who have thrombophilias and are treated during pregnancy have a high rate of successful outcomes. I hope this is the case for you, if you decide to try again. Do you have any other children ? I have 3 and am now wondering if this is really the cause of my late miscarriages because obviously I have had this MTHFR gene mutation all my life and can't figure out why it's causing problems only in the last 2 years. I hope you get the answers your looking for as well. Take Care,
Christine

[HandyJane]

Hi. Your situation sounds similar to mine. I do have a hemotologist. But she says she has never seen this combo before. She says the current medical consensus is that individually, neither of these (MTHFR 1298 or Prothrombin 20209) are symptomatic. But she and the "expert" she consulted at UCLA Medical have ever seen this combo. I have another appt this week to find out what protocol they have come up for me...but i was wondering are your Drs treating your MTHFR with the Folic, B vits and asprin?
Thanks so much!

[waitn2b]

Hello. I too have had 2 miscarriages. First one at 18 weeks, second was the next pregnancy at 17 weeks. After the second I was tested for MTHFR and it was positive. I have the heterozygous form. I have been tested for many other thrombophilias and they all came back negative but the strange thing is that my PTT (partial thrombin time - a general test in which they see how long it takes your blood to clot) was elevated. My ob/gyn said this MTHFR may be a coincidental finding and might not be the cause of the late miscarriages, but I have been tested for everything you can think of including karyotyping of my husband and myself and the babies we've lost. I've had antithyroid tests, ultrasounds for uterine fibroids and polyps, cultures for infections. Everyting is always negative so I believe th MTHFR is the cause. I am no dr. or expert but you may consider finding an obstetrician that deals with hematology issues and high risk pregancies. Most ob's just do not have enough experience in situations like this. You will probably be treated with mega doses of folic acid, b6 and b12, and a blood thinner like aspirin. I wish you well and hope you have success in your next pregnancy.

[leah2365]

I am homozygeous mthfr but I can't remember the gene numbers that they tested.  As far as I know of it is good that you tested negative for Factor V Leiden, it would cause a lot more complecations than just being MTHFR deficient.  As for experience, the only known treatment that I know of for MTHFR is vitiman suppliments for Folic Acid, B 12 and B 6, and an aspirin regiment.  They may also introduce a blood thinner depending on how bad your results/ readings are.  I'm not totally sure how they determine the last one.  Hope I helped you.  

[nunu1977]

wow, that is way over my head.. but welcome! I hope that someone can be more help.