Anybody C282Y heterozygote & confirmed with Haemochromatosis?

Hi there,

You are in the same position as me. I'm compound heterozygote with raised ferritin but normal iron, TSAT and LFTs but I do have the arthralgia (all joints) and occasional palpitations. I've also been fully investigated for other causes of raised ferritin - nothing found. My ferritin is 615

I was discharged from gastro as, like you, he doesn't feel I have iron overload. I've never had an MRI scan of liver or heart, not even an USS of liver. I've never had any venesections.

I'm thinking of paying privately for MRI heart.

Please do keep us informed about your results, I would be really interested to know.

The only other thing I've done to try and reduce my ferritin is improve my diet and cut out alcohol completely - I did used to enjoy a glass of wine or three

I'm going to ask them to check ferritin again in a few weeks to see if that has helped.

Have you had your vitamin D checked? I found that I had deficiency and taking high dose vit D has corrected it and some of my pains improved (but only slightly) Apoarently, vit D deficiency can be found in haemochromatosis patients.

Good luck with your scan

Biker,

I have had my vitamin D and generally it is low any time in my life it was checked. I was told low B12 is also related as well. I started taking B12 shots.

Question though, your ferritin is high. Why are you not treating this? Do not go to gastro for this purpose. Go to a hematologist. They will get you genetically tested and definitely send you for phlebotomies. I would not waste time to start this

Hi hemopatient123,

I am negative for C282y and have one copy of H63D and was told that I was unlikely to develop HH.  At that time my ferritin was circa 2700 to 3000.  Two years later my ferritin was circa 5006 and my TS% was 30%.  My liver function test were all normal and in fact every other test was normal.

I was eventually referred to a haemochromatosis specialist who sent my blood away to be genetically tested.  This came back as showing a mutation in the FPN gene called SLC40A1.  With this mutation you only need one copy from one parent to load iron and  the condition is called Ferroportin disease or Haemochromatosis type 4.  This condition always shows a low TS% saturation.

My liver function test was done again and was shown to be normal but my consultant decided that in view of my high ferritin a ferriscan should be done on liver and heart.  My liver had overloaded with iron and the reading was 14mg/g dry weight.  The normal level should be circa 2mg/g dry weight.  I was just at the point where damage to the liver could have occured.  My T2* on the heart was found to be normal, although I do get lots of palpitations that make me cough.

I was in my mid to late 40's when I was diagnosed and although my ferritin was high I did not feel any fatigue or lethargy.  Some joints were painful and I experienced some brain fog sometimes.

Because Ferroportin disease does not respond well to phlebotomy, I was venesected fortnightly.  After a while my hb dropped to 10.8 and I had to go every three weeks for a short while and then back to fortnightly.  It has taken me three and a half years to get to maintenance where my target ferritin is 200.

It might be worth considering that you have a mutation in the FPN gene like myself.

Best wishes

Marie

Hi Marie,

Thanks for sharing your story. What a story that is! I will check for the other genes if my cardiac T2 MRI comes back with iron deposition and phlebotomy doesn't resolve the iron in the heart. Otherwise as long as my body is responding to phlebotomy and removes any iron deposition in my heart, I would treat this the same way regardless of which genes are affected. My liver MRI already showed no excess iron there so I feel I am covered.

Separately I am surprised they didn't use a combination of chelation and phlebotomies for you given how high your ferritin was and how long it took you to come down given the hemoglobin response. Great to hear you are now fine. Did they re-check your liver with MRI after your ferritin returned to normal?

Chelation comes with side affects and although I am a needle phobe, I would rather the phlebotomies than the drugs. 

Yes, I had two further ferriscans during the three and a half years, one showed 8mg/g dry weight and the last one showed 4mg/g dry weight.  We decided that there was probably no need for another as it was coming down nicley.

I have been told that the liver is the first place for iron deposition, then the heart etc., so I would be surprised if you have any iron deposited in your heart, but you never know. 

Please let us know how you get on with the T2*.

Best wishes

Marie

I had the Cardiac MRI today and got the result as well. "Impression: No evidence of cardiac iron overload". I am very happy with this and the liver MRI result however this mystery continues for me. I had a Ferritin of 919 only 3 weeks ago but the two major organs that store iron don't have any iron in them. Where's all the iron then? In parallel to phlebotomy treatment, we looked for other causes of the ferritin being high such as inflammation or Hepatitis but thankfully those are also negative. I am stumped.

I'm coming up on my 4th weekly phlebotomy and I am already anemic. My ferritin came down to 646 after the first two phlebotomies so a ways to go.

I am going to get tested for ferroportin disease. Thanks Marie for this recommendation. I have a normal saturation % so it is possible that I have the classical form of ferroportin disease and maybe the iron is just circulating in my blood via ferritin and not being stored yet in organs. It does say with ferroportin disease that iron storage is in macrophages. I believe that macrophages are part of your red and white blood cells so maybe this correlates. I do have a abnormal large red blood cell size (MCV) so this has some possibility.

Any recommendations or thoughts are appreciated.