Does anyone have Hemocromatosis and??

Hi Wendy, You’ve sure been through the wringer with all of your symptoms and no firm diagnosis yet. It was great news to see your BMBX showed no sign of bone marrow issues or cancer so that’s a plus. But that good news is still overshadowed by the fact that you sense something is going on. Keep being the squeaky wheel! You know your body better than anyone else.

A timely article was dumped into my personal mailbox today. I subscribe to a medical site, uptodate.com and this article popped up about Hereditary hemochromatosis. This is just the opening line but if you have HH in your family this may warrant a look-see to find out if you’re one of those luckily members on the family tree…

“Hereditary hemochromatosis (HH) is most commonly due to homozygosity for the C282Y variant in the HFE gene. HH is a disorder in which increased intestinal iron absorption can lead to total-body iron overload.
The HFE C282Y variant is quite common; however, not all individuals with this variant develop iron overload.” (HFE-Human homeostatic iron regulator protein)

Since you mentioned there is a history of HH in your family, having blood work done for genetic testing sounds like a good next step for you. We don’t all neatly into the ‘trouble shooting guide’ for then human body. Oh, wait, we didn’t come with a manual! LOL.
Probably too early yet, but have you heard back about the results of your other scans from Friday?

@wendy517 , are your ferritin levels also high? That is a marker for iron storage in organs. I was tested for hemochromatosis 10 years ago, with a negative genetic test. No symptoms, just than blood tests. My abnormal liver enzymes and elevated ferritin levels were due to a medicine that I was on for decades (metabolized thru the liver). Ferritin levels and enzymes dropped to normal after giving blood 5 times that year. My hemoglobin levels are low normal. I switched meds which ended the iron homing in on organs. A GI tested me for celiac 14 years ago, but was sure that had I diverticulosis (colon damage) and not celiac because I didn't have anemia, so he didn't biopsy my small intestine. I still don't have diverticulosis, but I have celiac with no diagnosis. I tend to quiz doctors because like everyone else, some are good and informed, and some less so. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2657669/

I have a relative with hemochromatosis. It took years and years to get a diagnosis. He was quite annoyed that he ended up with joint pain and organ damage before finally getting treatment.

Since the treatment for hemochromatosis is phlebotomy, you might consider donating blood on a regular basis as a precaution. But be sure to tell your doctor what you are doing so that he is not confused by any changes in symptoms or test results as a consequence of blood donation.

Been on Coumadin 54 years
Deficienc

C. Also, thyroid meds for 48 years, thyroid isotope. Very high Ferritin but doctors not concerned. Colonoscopy, was good but get constipation- have both external and internal hemorrhoids that bleed but again told no worries. Have diverticulitis and diverticulos. Not feeling okay, all blood work recently taken was good but discomfort, nausea too. Now taking Linzess. Aunt passed age 71, not blood relative from hematosis, now her granddaughter, age 36 recently diagnosed. Why do I feel so unc

Welcome to Connect, @kathiegeary It sounds like you’re getting the ‘all clear’ from your doctor even though you have consistently high ferritin levels. You know your body better than anyone else and right now you’re not feeling well. You may need to be your own advocate to push for answers for why your level is so high.
Untreated iron overload may lead to complications like heart failure, diabetes, cirrhosis of the liver, cancer, and other serious health conditions.

Has your doctor run any tests to find the cause of your iron overload? You mentioned your recent blood work was good…but did you still have high ferritin?

I had just about every type of blood test taken, by my PCP and Oncologist/Hematologist
I am 74 all results were normal except Ferritin which they attribute to medication, no anemia. Last June, passed out and fractured spine T3, T9, T10, injured ribs, tailbone seeing specialists, healing no surgery required yet, new MRI's to be taken April 9. Spent 17 days hospitalized with COVID, diagnosed long haul, COVID hair. Have unfortunate health issues but dealing. Would bleeding when hemorrhoids burst occasionally but hospitalized and told better to lose the blood than removal of hemorrhoids because of Coumadin. Tired, weak, but all normal testing. Thinking a medication making me nauseated. Thanks for listening to me. Have been treated in my earlier years for a few years at Cleveland Clinic, small bladder stretched 50 years ago. After fractured spine have been treated for UTI's but neurosurgeon is hoping new MRI's show healing, have brace and only abnormal Ferritin levels - feel like I am a big health issue that could be worse. Ty

I used to donate regularly for many many years before covid, then it started rising after I stopped donating. They came to conclusion it was Polycythemia vera. Year later had bone marrow biopsy done and definitively showed NO blood cancer at all.

We're going to start looking at different types of arthritis. Plus do genetic testing for Hemocromatosis.

My iron level and saturation went High after I had 5 therapeutic phlebotomies. I questioned it and was shot down it was nothing to worry about 🤔

And you were tested for Hemocromatosis? Genetic test?

Thanks so much for the article, I will read that in next couple days. My father just passed, I was blessed to be there as he took his last breath. He was my buddy so I've got a hole in my heart now but he'll always be with me ❤️ 💔

I'm a little frustrated with all of this but trying hard to be patient. HH testing will be done and we're going to explore different arthritis because of all the joint pain and while my Dad was dying my hands went flaming red all at the knuckles and very hot to touch. Probably stress enduced.

Scans of lungs, abdomen and ovaries are all clean! Very happy to hear that. With all the migraines I get and my vision issues we'll probably scan the brain.

You've been fantastic, thanks again for the article! What great timing of that arrival in your inbox.

Will keep you posted.