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MTHFR

I have 2 daughters, one has the C677T mutation of MTHFR and the other daughter has the C677T and A1298C.
I am confused about what this really means.  The daughter with only the C677T was born with 2 holes in her lower back.  How can I find out what I need to do to help them?
3 Responses
223090 tn?1212452496


Hi

My name is lee I'm 42 .
I have the C677t mutation  .I found out when I want to a hematology last year when I was told I had a TIA .
I had A hard time fined any one to help me with this and a lat of DOC do not even on what it is.
I found this lady on line so this is what she said
You indicated that you are “+” (positive) for the MTHFR test but have “normal” levels of homocysteine.  
Individuals with elevated (higher than normal) homocysteine levels are at higher risk for heart attack, stroke and blood clots.
Since you have normal levels, this is seems reassuring.  

I do not know the details of your MTHFR test.  The MTHFR gene (instruction) makes a specific protein/enzyme involved in metabolism.
Usually the MTHFR test looks at the two copies of gene for changes (“mutations”) that would cause that protein to not function properly.
A person usually needs mutations of both copies of the gene to have higher homocysteine levels and/or medical problems.
From your note it is unclear if you have one (“heterozygous”) or two (“homozygous”) of the C677T mutations.

Some individuals are prescribed blood thinner if they have a history of blood clot, or a stroke or TIA/“mini stroke” which was believed to be cause by small blood clots. I recommend that you ask you medical provider to explain the reason for you being on a blood thinner.

Thank you,

Debbie

--
Debbie Hennerich, MS, RN
Genetic Counselor
Kimball Genetics, Inc.
(303) 320-1807
(303) 388-9220 (fax)

I know if you find a childern hosptal out by you then look up Genetic couselor they should help you. When my son had Crouzon they help me and there not many kids you find with crouzons .
There not much out there on this .
my e-mail is ***@****
If you need to talk
223090 tn?1212452496


Hi

I found this see if you can fine  a doc out where you live .http://ghr.nlm.nih.gov/handbook/consult/findingprofessional

good luck
342988 tn?1299782356
from what i know about the mutation, is it can cause problems with carrying a child since it causes thick blood flow.  many women with this mutation need blood thinning medication and aspirin prior to and during your first trimester of pregnancy.  i do not know anything about the specific strands expect for the fertility stuff because i was tested for it after having 2 back to back miscarriages.
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