Genetic Disorders Expert Forum
Multiple genetic mutations
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Multiple genetic mutations

I had a DVT in 2006 at the age of 24. After genetic testing I was informed that I was Compound Heterozygous MTHFR C677T/A1298C. Also positive heterozygous for the G20210A mutation in the Prothrombin gene. Initially i was perscribed temporary injections of lovenox and lifelong warfarin. My target INR range being 2.5-3.5 and I currently take 5mg of warfarin daily. I have never been told to see a hematologist, and I feel like there are other things I need to be doing. My primary doc has not been extremely helpful, especially with the idea of at home testing. I'm just not sure what to do! I have not dealt with any pregnancies yet, but hope to start my family in the near future, and I just want to make sure that I do all that I can for the safety of myself and my future children. I've already been told that I will have to take heparin when I decide to become pregnant, but are there other things I could be doing as well?? I am very open to alternative medicines and therapies, but I am having a very difficult time finding the assistance/direction that I need!! Any information relating to my mutations would be EXTREMELY helpful!!
Thanks a bunch!!
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We recommend that you meet with a hematologist, who is an expert on diseases and disorders of blood and the blood-forming tissues and can work with your primary care physican to optimize your treatment strategies.

Regarding future pregnancies, we recommend that you meet with a maternal fetal medicine specialist (MFM) who can discuss the implications of clotting disorders in pregnancy, your specific situation, and help guide an appropriate treatment plan leading up to and during your pregnancy.

A consultation with a genetic professional may also be beneficial. A medical geneticist can be found a the American College of Medical Genetics website. A genetic counselor can be found at the National Society of Genetic Counselors website or through companies like mine, AccessDNA.
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