MTHFR

[shasy03]

So, I've had 4 miscarriages (Sept 06, July 08, March 09, and August 10)  and my doctor that I had during my miscarriage in March of 09 did a lot of blood test on me once the hcg was out of my system.  He told me that I had a deficiency in B6, B12 and Folic Acid.  Never did he tell me I have a mutation in my DNA or wherever.  How can you NOT tell someone that they have a mutation on their chromosomes or in their blood, just that they had a deficiency in B6 B12 and Folic Acid?  They were AMAZING doctors but left town.  I feel that if they were here for the fourth pregnancy they would have figured something else out.  Needless to say they left in January and I got my medical records from their office Monday...and I find that I have the MTHFR deficiency...with mutations found in C677T/A1298C.  They say that its a rare disease and has a severe side and a mild side...and the type I have IS mild.  I haven't had much research on it but it says that 1 in 200,000 american have it.  It's not specifically from the mother or the father it can come from anywhere.  I just wanted to pass this information on as it is found in 35-40% of North Americans.  I'm still researching a lot about it and treatments for it...I'll post more.  Just wanted to say to ask your doctor if you have reoccuring miscarriages.  You can carry full term (give birth and the child be 4-7) and then learn you have this.

[Dragon1973]

Hi everyone,

Just wanted to answer a few questions, MTHFR is not the same as the test for Factor V Leiden, but often if someone has the variant C677T (which is one of the common MTHFR variants) they will test positive for Factor V Leiden.

A chromosome analysis doesn't cover the MTHFR testing so if you are curious as to whether you are positive for that genetic mutation, that test has to be ordered separately.

If anyone would like references to MTHFR, I have started a new FORUM for MTHFR:

http://www.medhelp.org/forums/MTHFR-Methylenetetrahydrofolate-reductase/show/961

Please do let me know if I can help answer any other questions.

In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.

Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.

Sincerely,
Sandi (Dragon1973)
MedHelp Genetics Community Leader;
Children - Special Needs Community Leader;
Down syndrome Community Leader & Ds Group Forum Founder/Moderator;
MTHFR Group Forum Founder/Moderator

[shasy03]

I did have the factor v leiden test and it was negative.  So with that test being negative I would not think it is the seame thing.  I feel like all of the test run together in someway.  Hopefully, I'll have some answers soon.

[megancannon]

i can't believe they did not tell you something so important. i have had 3 losses, 1 at 20 weeks, 1 at 5 weeks and 1 at 16 weeks and had a ton of blood tests done. i know i had a chromosome analysis done on me and my husband, both were normal and i had the factor v leiden test which was negative. do you know if factor v leiden is the same thing as mthfr? i asked my maternal fetal specialist if there were anymore genetic tests they could do on me, they told me they did everything they could and that factor v leiden is just another name for mthfr. i wasn't sure if this was true.. because they kind of seemed like they just didn't want to help me.