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MTHFR C677T????
Hey all!!!! I just wanted to ask what this means???? I tested positive for one copy of this, but has anyone else????? and what did they do for you?????
Jacquie
Jacquie
what is that? tested like in bloodwork? sorry, im lost as can be. i took the mthfr as m.oth.er f.uck.er though lol.
Hi there...I don't know what it means, either...but if you go to Google (or any other search engine) and just type it in (just "MTHFR C677T" - no other words) you will get a ton of results that should help explain it for you!! Sorry I couldn't be of more assistance and hope that helps!
OK, I thought it sounded like that too!!! LOL!!!! That is what I call it!!!!
I think it has to do with clotting issues....when you do bloodwork for clotting disorders, this is one of the tests done....it's a DNA thing..... I am lost too....
THanks for trying to help....but I know that I am not the only one with this stupid gene mutation!!! crazy huh!!!
Jacquie
I think it has to do with clotting issues....when you do bloodwork for clotting disorders, this is one of the tests done....it's a DNA thing..... I am lost too....
THanks for trying to help....but I know that I am not the only one with this stupid gene mutation!!! crazy huh!!!
Jacquie
LOL, I thought it was made up the 1st time I saw it. I think, not positive though, that Javajess tested positive for it and FragileX also. It may have been some one else, it's been a while now.
I also tested positive for that. It is a type of clotting disorder, which I saw a perinatologist to discuss because it some circumstances it can lead to miscarriage. I was told to take bunches of Folic Acid to counter act the effects. I take my prenatal plus three 800mcg folic acid tablets. The folic acid should take care of the problem from what I was told, but doc said we will check it again when I get preggo and It may or may not require Heparin use.
Hi there. I am compound heterozygous MTHFR. Here is what I found through my research: (previously posted on my blog)
MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either:
a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),
b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still fixable), and
c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations)
I did some more research and found an interesting site (which I lifted this info from).
"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous."
The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. (LUCKY ME!) Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.
Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.
http://www3.fertilethoughts.com/forums/showthread.php?t=351238
Heterozygous MTHFR is fairly common in caucasion populations and is the "lesser" of the mutations. Compound heterozygous and homozygous MTHFR have definitely been linked to implantation failure, late term miscarriages and overall vascular health and also anything dealing with birth defects that lack of folic acid can cause. Which ever type of MTHFR you have, it should not be discounted.
Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts homocysteine to an essential amino acid (methionine). When the genes are mutated you may be lacking this enzyme. Your homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations because homocystein levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).
Many doctors prescribe folgard which is high levels of folic acid, b12 and b6. These vitamins are what the body essentially needs to convert homocyteine to methionine. To put this into perspective, the average prenatal has 800mcgs of folic acid (200% of the normal daily value). I am compound heterozygous, and I am required to take 5mgs of folic acid/b vitamins (6 times more than the prenatals have in them plus the prenatal!) --compiled by "Sparkle"
Hope this helps you out some. Good luck. BTW I am currently 11weeks pg with twins, so it does happen even with this condition (and a protein s deficiency too).
MTHFR (Methylene-Tetra-Hydro-Folate-Reductase) mutations- it is important that you find out which category of this mutation you fall under. This mutation could be either:
a) heterozygous (there are two parts to this gene, and each part has two parts, so there is a possiblity of 4 places for mutations. Heterozygous means you have one mutation on one part of the gene. This is the most common and impacts you the least),
b) compound heterozygous (this would be one mutation on each part for a total of two mutations. This would be a little more serious, but still fixable), and
c) homozygous (this is when you have both mutations on one part. This is the most serious of the mutations)
I did some more research and found an interesting site (which I lifted this info from).
"First, with MTHFR, there are two different kinds of mutations, as you've said, and it's possible to be "heterozygous," "compound heterozygous," or "homozygous."
The most severe MTHFR problems occur with homozygous C677T, meaning two copies of the "C" mutation. Next most serious is compound hetero, which means one copy of the "A" mutation and one copy of the "C" mutation. (LUCKY ME!) Next most serious is one "C" mutation. After that, it's two "A" mutations. The least serious is a single "A" mutation.
Any and all of these mutations can affect homocysteine levels, but there is much dispute as to whether elevated homocysteine levels are actually needed in order for MTHFR to cause trouble. Many other MTHFR patients have normal homocysteine levels, yet have had implantation problems and/or m/c's due to clotting problems. So it is important to find out your homocysteine levels (although again, normal doesn't necessarily mean all is well). This is a serious field and MTHFR is a serious condition, so consulting an expert is wise.
http://www3.fertilethoughts.com/forums/showthread.php?t=351238
Heterozygous MTHFR is fairly common in caucasion populations and is the "lesser" of the mutations. Compound heterozygous and homozygous MTHFR have definitely been linked to implantation failure, late term miscarriages and overall vascular health and also anything dealing with birth defects that lack of folic acid can cause. Which ever type of MTHFR you have, it should not be discounted.
Essentially what this means is that the genes that instruct MTHFR to convert homocysteine to Methionine are mutated and may not be capable of doing this important function. MTHFR is an enzyme that converts homocysteine to an essential amino acid (methionine). When the genes are mutated you may be lacking this enzyme. Your homocysteine levels can possibly climb making the blood clot. Some doctors don't check for the MTHFR mutations and rely only on homocysteine levels. This isn't as reliable as testing for the mutations because homocystein levels fluctuate (if you catch your level on a normal day, you may go undiagnosed).
Many doctors prescribe folgard which is high levels of folic acid, b12 and b6. These vitamins are what the body essentially needs to convert homocyteine to methionine. To put this into perspective, the average prenatal has 800mcgs of folic acid (200% of the normal daily value). I am compound heterozygous, and I am required to take 5mgs of folic acid/b vitamins (6 times more than the prenatals have in them plus the prenatal!) --compiled by "Sparkle"
Hope this helps you out some. Good luck. BTW I am currently 11weeks pg with twins, so it does happen even with this condition (and a protein s deficiency too).
Hello!!!! Thank you so much for this information!!!!Where do I get folate???? It says in my file that I have heterozygous C677T MTHFR..... so I guess I would still need the extra folic acid, etc..... so I had better get some ASAP!!! mY RE knew about this and didn't tell me...I only know b/c I asked for a copy of my records!!!! It's crazy huh.... I also have hashimotto's disease (which also causes clotting......., elevated Anti-thyroid Antibodies 380, when it should be less that 35) so with the combination of the 2, it's probably not so good.....
Thank you soooooo mcuh for your help!!! Congratuations on your pregnancy!!!! ((HUGS))!!!! Jacquie
Thank you soooooo mcuh for your help!!! Congratuations on your pregnancy!!!! ((HUGS))!!!! Jacquie
I had no idea what that was. I thought somebody was cursing somebody out!! LOL :-)
I just had a TON of bloodwork run by the perinatologist and discovered I have a heterogeneous C677T mutation (normal homocystine). We lost our daughter at 22 weeks on Jan 6, 2007 d/t a clot in her cord. I have been worked up over the last 2 years for an autoimmune disease called "Behcet's Syndrome" but can't truely get a dx b/c I don't have all of the criteria. Short of the story, the OB and High Risk are treating me as a high risk pregnancy d/t the fetal demise and autoimmune disease (the rheumatologist will say at least that).
Anyhoo, I take folic acid 800mcg daily and started on a baby asa last week. I can't take prenatals d/t the severe constipation....where did you all find all of this wonderful information? My hits online haven't been that successful (except this one :) The High Risk OB hasn't suggested the increase in folic acid or B-vitamins....that kind of worries me. He is really well respected and known here.
To complicate things, I started spotting and cramping 2 days ago and now I am on bedrest for 2 weeks....not fun but if it will get me my baby.....
I guess I don't know exactly what else I want to know (all of the postings are extremely helpful)...I think I just need to "talk" and my husband thinks I am a neurotic, pregnant, worry-wart nurse. I will give him that I was with our last pregnancy, but can you blame me???????
Any specific resources would be greatly apprectiated!
Anyhoo, I take folic acid 800mcg daily and started on a baby asa last week. I can't take prenatals d/t the severe constipation....where did you all find all of this wonderful information? My hits online haven't been that successful (except this one :) The High Risk OB hasn't suggested the increase in folic acid or B-vitamins....that kind of worries me. He is really well respected and known here.
To complicate things, I started spotting and cramping 2 days ago and now I am on bedrest for 2 weeks....not fun but if it will get me my baby.....
I guess I don't know exactly what else I want to know (all of the postings are extremely helpful)...I think I just need to "talk" and my husband thinks I am a neurotic, pregnant, worry-wart nurse. I will give him that I was with our last pregnancy, but can you blame me???????
Any specific resources would be greatly apprectiated!
I just found out that I am homozygous for MTHFR C677T. The only reason that I know about is because of my little sister. She had a baby at only 23 weeks gestation and he only survived a few days. After arguing with two different doctors they finally ordered the DNA test on me to prevent anything like that from happening. Now that I finally have the results (I work in the lab), I am wondering if you think I need to be on some type of medication or to go see another doctor that is educated in MTHFR. All the doctors that I have seen so far in the Army have had to look it up on the internet and it seemed that I knew more from my research than they did.
See a reproductive endocronologist or hemotologist for a consult...even if you have to pay for the initial visit out of pocket, you will at least be armed with information about your specific diagnosis. I am not sure if the army has such specialties, but maybe you can find one willing to refer you?
You will most likely need special medications to help you maintain a pregnancy, especially in the second and third trimeters. Your variation is the most severe, so you should be an advocate for yourself and your babies.
I wish you luck!
You will most likely need special medications to help you maintain a pregnancy, especially in the second and third trimeters. Your variation is the most severe, so you should be an advocate for yourself and your babies.
I wish you luck!
I am heterozygous MTHFR...I think the compond one...2 gene mutation...does that mean compound?? My RE recommended I see a genetic counselor. My homocysteine levels are good. I am taking folbic on top of prenatals. Folbic gives you extra folic acid and vitamin B6 and B12. I am also taking one baby aspirin a day.
I have the same gene mutation as yours. My doc prescribed me VitB-6, B-12, baby aspirin, and folic acid, and said go ahead and get pregnant. I got prgnant and miscarried. He sent me to a perinatologist who said you have to be on all those vitamins AT LEAST 3 months before you try to get pregnant. I waited for 6 months. I got pregnant. He also prescribed me progesterone. I had morning sickness all day long, was tired and sleepy all day long. I was sure everything was ok.
On my first appointment they told me the fetus is too small for the gestational age. More likely it died. I have my second sonogram tomorrow to confirm it.
When I asked my perinatologist what is the rate of livebirths with such jene mutation, he said 99.9%. I have been on different forums and have never met anyone, who actually had a baby with this jene mutation. I don't know if these girls stop writing after they have a baby or there are no any?..
Wishing you luck and I want your story have a happy ending.
On my first appointment they told me the fetus is too small for the gestational age. More likely it died. I have my second sonogram tomorrow to confirm it.
When I asked my perinatologist what is the rate of livebirths with such jene mutation, he said 99.9%. I have been on different forums and have never met anyone, who actually had a baby with this jene mutation. I don't know if these girls stop writing after they have a baby or there are no any?..
Wishing you luck and I want your story have a happy ending.
I don't want to jinx anything, but I am currently 24+weeks pg with twins. I have one copy of each of the mthfr genes. I am being monitored regularly and so far all is well with my boys. They are even measuring big for their gestational age!
I am doing folgard (folic acid and b vitamin mix), ba, prenatal, and I did 12 weeks of Lovenox.
It can and does happen!
I am doing folgard (folic acid and b vitamin mix), ba, prenatal, and I did 12 weeks of Lovenox.
It can and does happen!
I'm happy to hear your happy story! My RE acted like this wasn't that big of a deal but reading everybody's stories has me worried. My homocysteine levels aren't high so he doesn't seem too concerned. He just told me I am heterozygous MTHFR...I think that's a 2 gene mutation...I'm not sure about the c677T thing...do you know if that is homozygous or heterozygous MTHFR? Thanks for the words of encouragement!
Heterozygous is one gene mutation of either C677T or A1298C (your category and least worrisome)
Homozygous is two gene mutations of either C677T or A1298C (the most severe)
Compound heterozygous is one gene mutation of each C677T and A1298C (what I have and second most severe)
I'm not sure which mutation you would have, you would need to check with your doc. You are most likely okay as long as your homocysteine levels stay within normal range. If you are concerned about your levels you might have your doc check your homocysteine levels again to verify results.
Are you on extra folic acid and B vitamins? Your doc can prescribe the folic acis and b vitamins to keep your homocysteine levels in check. (prenatals don't have enough folic acid to do this) They also have supplements over the counter if you want to add this to your diet on your own. Whatever your body doesn't use/need is ejected without harming you. You can google mthfr to find out recommended amounts of each vitamin to help you out.
Good luck!
Homozygous is two gene mutations of either C677T or A1298C (the most severe)
Compound heterozygous is one gene mutation of each C677T and A1298C (what I have and second most severe)
I'm not sure which mutation you would have, you would need to check with your doc. You are most likely okay as long as your homocysteine levels stay within normal range. If you are concerned about your levels you might have your doc check your homocysteine levels again to verify results.
Are you on extra folic acid and B vitamins? Your doc can prescribe the folic acis and b vitamins to keep your homocysteine levels in check. (prenatals don't have enough folic acid to do this) They also have supplements over the counter if you want to add this to your diet on your own. Whatever your body doesn't use/need is ejected without harming you. You can google mthfr to find out recommended amounts of each vitamin to help you out.
Good luck!
I just reread the email my RE sent me. I am compound hetero. MTHFR. He has me on Folbic (which have extra vitamin B and folic acid in them. I'm also taking a baby aspirin a day...I'm so glad to hear you are doing well. It gives me hope. I had a m/c in June and demanded that I was tested and it was such a good move. I love the website you posted above. It was so informative. Do you see a reproductive immunologist or just an RE?
Ok so I stopped reading when I finished baby1234's first post. I had a stillborn at 27 weeks in 2004. The umbilical cord had formed very small at her belly button and a blood clot had stopped the blood flow to her. The Dr. did not exactly explain to me how it happened or do any sort of testing. I know I have clots all the time with AF. This sheds a new light on things for me. I am getting married again soon and we will be going to a Dr. to try and conceive. I am going to inquire about this from the beginning. Thanks for everyone posting on this subject.
Faith--so sorry about your loss. I would definitely make sure that you are tested for thrombophilia issues when you decide to ttc again. Third tri losses are often due to clotting disorders. Have them do the the recurrent miscarriage panel (the common name). It is about 9-12 vials of blood for the whole panel, so expect them to take a lot. MTHFR can be a contributor to your baby's death, but it wouldn't surprise me if there isn't more happening to.
I wish you well with your marriage and ttcing.
Ashort--Sorry for your mc. After my first mc I wanted to be tested for clotting, but I let my doctor convince me it was bad luck or bad eggs. When the second mc happened, there was no way I was leaving until he gave me those bloodwork slips!!! I think the doctor was surprised when something actually showed up with the bloodwork (mthfr and protein s deficiency). I see only the RE and I still trust him despite him not listening to me. I take that blame on myself...I learned to be my own advocate from that and to remember they are only human.
I wish you well with your marriage and ttcing.
Ashort--Sorry for your mc. After my first mc I wanted to be tested for clotting, but I let my doctor convince me it was bad luck or bad eggs. When the second mc happened, there was no way I was leaving until he gave me those bloodwork slips!!! I think the doctor was surprised when something actually showed up with the bloodwork (mthfr and protein s deficiency). I see only the RE and I still trust him despite him not listening to me. I take that blame on myself...I learned to be my own advocate from that and to remember they are only human.
Promise us when you have your babies not to forget to inform us. We all really need a happy ending story!!! Please!!! Hope all the girls are with me on this.
Hey there. I have both the MTHFR C677T and A1298C. I have struggled with miscarriage after miscarriage. I was fortunate enough to have a beautiful little girl a couple of years ago and we are trying again. What I have found to be the most important part of having this mutation is finding a doctor that knows what this is. I have had a couple (we have moved around and needed to find new dr's) that had no clue how to help and all of my miscarriages were with these dr's.
I am now working with a perinatologist in Columbia, MO and an excellent OBGyn there as well. They know what they are talking about and that has brought my level of anxiety down - which is important as well.
I am on heparin (blood thinner), baby aspirin, l-methylfolate (which is the broken down form of folic acid). The l-methylfolate is due to our bodies not able to process folic acid. That is why dr's increase the folic acid recommendation to 4 - 5 mg during pregnancy. They also suggest taking b6 and b12. My OB has also suggested staying away from refined sugars (enriched flour, donuts, ect.) he thinks a Mediterranean diet is a good diet to follow.
It is also important to remember that the whole pregnancy should be viewed as high risk. Not just the first trimester. Your dr can give you more information on this.
Please know - for those that have the miscarriages, you can do this. We pushed through after 3 mcs and now have a perfect child. We had another mc after her (when we started trying again). But I know that we can do this. My Ob's nurse also has had a successful pregnancy.
Good luck and remember that there are Dr's out there that know exactly how to help you. We drive an hour to see ours. It is worth it.
I am now working with a perinatologist in Columbia, MO and an excellent OBGyn there as well. They know what they are talking about and that has brought my level of anxiety down - which is important as well.
I am on heparin (blood thinner), baby aspirin, l-methylfolate (which is the broken down form of folic acid). The l-methylfolate is due to our bodies not able to process folic acid. That is why dr's increase the folic acid recommendation to 4 - 5 mg during pregnancy. They also suggest taking b6 and b12. My OB has also suggested staying away from refined sugars (enriched flour, donuts, ect.) he thinks a Mediterranean diet is a good diet to follow.
It is also important to remember that the whole pregnancy should be viewed as high risk. Not just the first trimester. Your dr can give you more information on this.
Please know - for those that have the miscarriages, you can do this. We pushed through after 3 mcs and now have a perfect child. We had another mc after her (when we started trying again). But I know that we can do this. My Ob's nurse also has had a successful pregnancy.
Good luck and remember that there are Dr's out there that know exactly how to help you. We drive an hour to see ours. It is worth it.
Wow! It was so wonderful to hear everyone's story. I learned so much. I am compound heterozygous for MTHFR. I found this out after 2 miscarriages this year. After a lot of research, I asked my OB to allow me to have a homocysteine screen because I read that the compound heterozygotes can have the same risks and symptoms of homozygotes. She disagreed and started getting defensive and irritated at me so I backed down. I don't know if I am going to try to have anymore children because we already have 3 precious boys (lots of work!!). But if we do, I want to get a doctor that will take this more seriously.
Thanks so much for sharing- especially baby123. That was the best explanation I have heard and confirmed all my research. I am going to print this out for my DH to read.
Do you think that I am right in wanting to get the homocysteine screen? And, pregnancy aside, what should one do in my situation to be healthy for the rest of my life living with this problem. In other words, to protect my heart and health should I be taking extra B vitamins etc...
Thanks so much for sharing- especially baby123. That was the best explanation I have heard and confirmed all my research. I am going to print this out for my DH to read.
Do you think that I am right in wanting to get the homocysteine screen? And, pregnancy aside, what should one do in my situation to be healthy for the rest of my life living with this problem. In other words, to protect my heart and health should I be taking extra B vitamins etc...
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