Posted , 7 users are following.
Just been told I'm heterozygous H63D and been referred to gastroenterologist. What I've read on net says I shouldn't be at risk of loading iron but I am....transferrin sat is 60% ferritin is 286, anyone know why? And will I need phlebotomies? Thanks
1 like, 13 replies
We want the community to be a useful resource for our users but it is important to remember that the community are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the community is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.
marie86421 s230406
Posted
I am heterozygous H63D and had a ferritin level of 5000 and transferrin saturation of 30%. A little while later my ferritin was 4800 and transferrin saturation 60%.
Like yourself, I was told that I was not at risk of loading as I only had one copy of the gene. My ferritin was circa 3600 at this point. I continued to load and was referred to another consultant who specialises in haemochromatosis. He suspected that there was a mutation of the FPN gene and my blood was sent to be checked. The result was that I had a ferroportin mutation and was diagnosed with ferroportin dlsease.
If possible, you should ask your consultant whether a test can be done to check for ferroportin disease, especially if you keep loading iron.
You will need phlebotomies to get rid of the excess iron in your body. If you have ferroportin disease your frequency of venesection will be further apart than for HH patients. Ferroportin disease does not respond well to phlebotomy, if you are bled too quickly you can become anaemic!
I have responded well to fortnightly phlebotomies, going to three weekly for a short period of time as my haemoglobin dropped below 11 and the hospital had a protocol that women were not venesected if their hb fell below 11. I did start to feel tired and began to get headaches. Once I went to three weekly for a while my hb recovered and I went back to fortnightly where my hb remained above 11.
I hope you find the above helpful and that you manage to get a genetic test done for the ferroportin mutation.
Please keep us all informed how you get on.
Best wishes
Marie
s230406 marie86421
Posted
s230406
Posted
marie86421 s230406
Posted
Transferrin Saturation is a measurement of the amount of iron that transferrin can bind and transport in the serum. A saturation above 50% indicates that a large amount of iron is available or transport and deposition. As a general rule the TS of most patients should fall below 50% when sufficient iron has been removed, although TS can remain elevated in severe liver disease.
You might find some more information on the net, put in iron overload and lots of sites will come up giving you a more detailed description of the disorder.
Your ferritin is not too high, and your GP has caught it early. Once you have been diagnosed you will start venesection. Our appointments in the UK take about four to six weeks after referral. I hope you get your letter soon.
Best wishes
Marie
marie86421 s230406
Posted
Marie
s230406 marie86421
Posted
marie86421 s230406
Posted
Marie
haircrazydaisy s230406
Posted
jwrhn1951 s230406
Posted
I am a H63D homozygote. Its been my experience that the medical community knows very little about the mutation they on associate hemochromatosis with he CY mutation. I was initially told that I could not load iron, after a liver biopsy showing the classic hemochromatosis periportal pattern and 25 weekly phlebotomies they finally said maybe I did have HH.
In my case it looks like I have sustained organ damage including the liver and brain as well as potential prostrate cancer.
Find someone who is an expert in the field, become your own advocate and dont let anyone tell you that the H63D mutation cannot cause signifigant damage. The fact is no one has studied the mutation enough to know what its potential effects are.
haircrazydaisy jwrhn1951
Posted
sheryl37154 jwrhn1951
Posted
My husbands ferritin iron was something like 557 when diagnosed. He then was diagnosed with Hodgkin's Lymphoma (no evidence that HH was the cause of course). After chemo and radiumtherapy he no longer loads iron. Not a very good way to be cured of HH!
I have found in my readings that H63D are more prone to certain conditions than C282Y (and vice versa) - wish I could remember but iron on the brain at present. Diabetes seems to be vaguely in mind. Anyway, I am sure you will find them in your research.
jwrhn1951 sheryl37154
Posted
There is an interesting article called H63D: The Other Mutation that you can google. It identifies monay of the potential risks folks with the mutation seem to have.
My Ferritin was 1857 at diagnosis and liver iron staining was 3+. It only took about 6 months to get de-ironed (so they say I am) and have been on maintance every 8 weeks,
The thing that is most concerning to me is the fact that in my case the iron seems to have crossed the brain-blood barrier and deposited in the brain. I've read articles saying this should not happen, just like I've read articles saying I should not have loaded as much iron as I did...
It is quite frustrationing as to how little is known about the CY and there seems to be even less known about the HD mutations.
sheryl37154 jwrhn1951
Posted
It seems to me that one of the first organs that iron hits is the hypothalamus - it does not have a blood-brain barrier - it allow blood in to 'test'. From there it goes to the pituitary gland which is right under the hypothalamus. This is where all the hormone problems start - hypogonadism, reduced menstruation, early menopause, infertility, thyroid problems, prolactinoma, growth hormone problems, etc etc.
The hypothalamus, among other things, controls temperature regulation (feeling cold/hot abnormally). As for other parts of the brain, there is plenty of MRI evidence of iron deposits.
Now one or other of these causes the depression and bad moods that some people with HH have. It is not being given the importance it should be given. There is more to HH complications then liver, pancreas, arthritis - even heart does not get enough attention.
When I was found to have severe arrythmia, I was given beta blockers. As it dilates blood vessels, guess what? It provided a path for more iron into my brain. Immediate fog, unable to find more than two words at a time, brain not talking to bladder, unable to remember where I was going when driving to dr, then unable to remember where dr surgery was, then unable to read traffic lights. Now not driving at all.
While there is evidence of it, there is no definitive research on it. They cannot replicate it in mice, so there is denial. An Australian research team is going to try to replicate my experience with Beta Blockers on mice - when they can get some funding!!!!
Cerrabella ataxia ('scuse spelling) can be caused by iron on the brain, plus another part of the brain, I can't remember at the moment ('cause of iron on the brain!).
Google "brain and iron overload" to get better responses. My Head and Neck Oncologist has taken an interest in it and has noticed my deterioration. He was involved in the removal of a deadly epithelial-myoepithelial tumour in my parotid gland and I am monitored every 3 months with an MRI. But I must say, as much as he closely examines my MRIs (he is a radiologist too), he does not 'see' any sign of iron deposits.
I have seen a picture of a MRI indicating iron deposits. They also find it in autopsies - great - bit late then!
One thing I have noticed is that people who have had glandular fever at some time in their lives, seem to have more severe symptoms from HH. This is my personal experience with people with HH - have not seen it in any research.
Glandular fever actually does a lot of damage to our organs - providing an easy pathway for iron deposits?????
I will check out that article about The Other Mutation - I might have already read it.
The best advice I was given when I consulted a specialist cardiologist about iron deposits in heart - even if they could see it, they can't drain it, cut it out, etc - gotta keep having those venesections!