MTHFR question


I know I am homozygous for A1298C - had spina bifida in utero but closed over before I was born. I’ve been encouraging my sister to get tested because her and her husband are going to be trying for #2 soon. She called her doctor to see about getting tested and he doesn’t think she needs to be tested as if they find out anything the only thing that could be done is to take folic acid. My RE put me on a prescription supplement that gives me 5000mg folic acid/day - over the counter prenatals only have 800mg.

So question is because I am homozygous for this gene wouldn’t my sister also have a chance of having this gene - maybe not homozygous but maybe heterozygous?


I’m heterozygous and my RE suggested my siblings and patents got tested, my younger sister did and she didn’t have it. My parents both have the blood work orders just haven’t had them done yet. My RE told me it was important for them to get tested because I got it directly from one of my parents. When they asked their doc to give them the blood work orders, theirs doc told them it wasnt necessary to find out but my mom insisted to get it done so the doc finally gave in. Hello don’t people know that you have a higher risk of heart disease, stroke and heart attack, not to mention the risks you can have while :preg: like blood clots in the imbillical cord causing still birth. That was enough for me! Hope she will change her mind. It’s only blood work :cross:


Thanks so much! I hope she decides to get tested too. I imagine she might be at least heterozygous since I am homozygous dominant - it could be that she was the lucky one and doesn’t have it (she’s always the lucky one…lol).