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H63D Gene Mutation & Severe Iron in my brain
Hi everyone,
I will try my best to be concise with my issue. In 2013 I had breast cancer and had 3 surgeries that year. I felt that I was having some cognitive issues (I didn't know if it was from all of the anectisa that year). My doctor ordered a fractional MRI (at University of South Florida). The results came back that I had severe iron build up in my brain for someone my age (46 at the time) and that it was indicative of some of the neurodegenerative disorders.
My dr told me "not to worry about it." However, being me, I'm concerned about it! So, I went to a Hematologist in Sarasota and I tested positive for one of the more unknown genes for Hemochromatosis the H63D (homogeneous). Yet, my overall ferritin level in my body was low. My hematologist said in his 20 years of practice he has never seen anything like it. With the iron being in my brain but not other organs.
Does anyone have any information on this? I now live in Wisconsin about an hour actually from Mayo in Rochester. I would really like to know what is going on because if I can do something now about this iron that would help me, I want to. I'm very concerned about this. I haven't had another fractional MRI since then. However, my 2011 MRI is uploaded in the Mayo system (I saw a Neurologist in Eau Claire, WI), but only had the report at that time, not the images.
No one there seems to know what to do with me.. Any input is greatly appreciated! Best wishes and positive thoughts to everyone!
Butterfly
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Hi, you need to go to the iron disorders institute website and get on their email chain. This email chain is their support group and is for folks like yourself with hemochromatosis. I joined about 6 months ago because my husband and daughter have iron overload and I needed answers since no doctor knew what to do. The people on the email chain have taught me so much. They are a wealth of info and have been through the ringer! The % TSAt is the most important factor not ferritin. If %tsat is over 40% you will have free iron binding to organs such as brain, heart, liver. You need to start phlebotomies to reduce the iron in your system. I’m sure they told you that much, I hope?? I’m sorry you’re going through this but please go to the site and get in the support group email you will learn a ton!
Hi Sunnyside17,
Thank u SO much for your response! I will definitely check out that website! May I ask if your husband and daughter tested pose for the PANK gene mutation and/or other gene mutations?
I have not done any phlebotomy or even chelation meds. I just want to get ahead of this if I can. It's my short term memory that is just awful. There could be some devastating issue with a family member and i will completely forget about it, unless i keep reminding myself. I've gotten tired of hearing my mom say "honey, I told you about that." I feel so stupid!
Best wishes to u and your family!
They have only been tested for the two main gene mutations for hemochromatosis, not the PANK gene. Did you test positive for that? I see iron accumulating in the brain is a symptom.My daughter is suspected to have familial hypobetalipoproteinemia a genetic condition that causes very low cholesterol. She’ll get tested in a few months. I’m sorry I would’ve left link to website but don’t know how to do that here. You should be able to find it easily. I’m sorry you’ve suffered so but there is hope as phlebotomy will help to draw the iron out of your brain as your body uses those iron stores to make new blood(I think) My best to you! Hope to see you on the iron email chain soon.
Hi everyone, long story short, I had a fractional MRI in 2013 bc I was experiencing some cognitive issues (short term memory for the most part). The results stated that I had severe iron in my brain for someone my age (46 back then) and that the iron is indicative of one of the neurodegenerative diseases.
This part may or may not be related. I saw a hematologist and tested positive for the H63d gene mutation. So I'm not sure if I have hemochromtosis or not.
I would really like to get an appointment in Rochester but don't know where to start. Is there a dr that I could email about my questions?
I just want to get ahead of this and do whatever I can to keep living a full life.
Thanks and positive vibes to all!
Butterfly
Hi, @butterflylan17 - If you are interested in requesting an appointment at Mayo Clinic, this link will lead you to a phone number and a place to make an online appointment request http://mayocl.in/1mtmR63.
Wondering things are going lately? Are you continuing to experience the cognitive issues you mentioned previously?
Are there any doctors at any of the Mayo Clinics that acknowledge the importance of high transferrin saturation and non-bound iron and the existence of H63D Syndrom?
@czikos, short answer is Yes!
You may wish to look into the specialty Hereditary Hemochromatosis Clinic at Mayo Clinic's campus in Florida
https://www.mayoclinic.org/departments-centers/hereditary-hemochromatosis-clinic-in-florida/overview/ovc-20357746
I would highly recommend you seek treatment at Mayo for this. It’s a type of hemochromatosis and you will probably have other organ’s with iron deposits in future if this isn’t treated. It’s a serious disease that can cause diabetes, thyroid problems, heart disease, liver disease and arthritis, plus others. The hematology clinic is what you need and the special clinic in FL is a great idea.