iron overload disease but no idea how??!!
Posted , 5 users are following.
So a few months back I posted on here that my daughter has been diagnosed with an iron overload disease. She had routine tests and genetic testing before finding out she had 1 faulty gene for Juvenile Hemochromatosis.
But as this is a recessive disease she should only be a carrier and this gene alone isn't enough to be causing her all the problems she has had.
She has been having monthly venesections for just over a year which has been working for her and we're so close to her levels being around the 50 mark.
However, after further dna testing of all her genetic strands, nothing at all has shown up, not even any of the genes associated with hemochromatosis (apart from the 1 mutation)
The medical professionals are dumbfounded as she definitely has an iron overload disease but nothing medically is explaining why.
Has anyone ever been in this position, or knows of any other reasons to cause iron overload?
She has been tested for every genetic mutation and regular blood tests for everything they can think of mind so I am not holding out any hope but somebody might just be able to help.
1 like, 11 replies
marie86421 Griffalo
Posted
There is another form of haemochromatosis called Ferroportin Disease (type 4). I have this type and you only need one copy of the gene to load iron. Most of the genetic tests are done for the HFE gene which is for the classis form of haemochromatosis. There is another test for the FPN gene, in particular the SLC4A01 gene.
I had every test going at the hospital and then finally I was sent to London (UK) to a consultant who specializes in the disorder. He sent my blood off to Oxford University to check specifically for Ferroporting disease. I was diagnosed at last and my ferritin was 5000. It has taken three and a half to four years of fortnightly bleeds to get to maintenance.
Ferroportin does not respond well to phlebotomy, if you are bled too much you can become anaemic, even if you are iron overloaded.
You can google Ferroportin disease to find out more about it. It might be worth mentioning it to the consultant to see if he can get the genetic test done.
Good luck and best wishes
Marie
Griffalo marie86421
Posted
They did say that the blood test didn't show up any of the mutations that you would find associated with hemochromatosis so would this not have shown up?
marie86421 Griffalo
Posted
When I was first sent to a haematologist, he did all the normal tests and found that I had one copy of H63d and negative for C282y. One copy of H63d does not load iron (that was what I was told) and it was a mystery why I was loading. Several meetings with his colleagues proved fruitless, hence the referral to London.
I have been told that this gene was discovered in the 90's, so only recently, and there is not much known about it. In my own case, regarding the treatment, it has been 'let's try this and see how you go'. Your consultant may not know about it.
Griffalo marie86421
Posted
It does sound like it fits the bill of her symptoms but as he was the one who done the report I fear he would have done this test already. Well I would like to think so anyway. But will still bring it up at our next appointment. Thanks again Maria, will let you know how I go
Mrs._Z Griffalo
Posted
Griffalo Mrs._Z
Posted
As well as seeing a Hemochromatosis specialist and a blood specialist, my daughter has a care plan with a liver specialist also. She was told that everything is OK apart from raised liver enzymes and that her liver is loading iron from the disease.
She is 12 in a few months.
sheryl37154 Griffalo
Posted
He also has written about how other minerals affect our iron which I find very interesting. Some can increase iron uptake, some reduce it. Iron overload can cause a decrease in copper, an overload of copper can cause a decrease in iron, etc. Zinc and others come into the picture too. Sometimes our genetics/environment can make us absorb/ or not absorb a normal amount of some minerals (not just iron) thus throwing out the balance of others.
Similarly, for vit B12 and vit D, enzymes, proteins, hormones.
I really hope you find the answer.
Griffalo sheryl37154
Posted
I know she had her zinc and copper etc tested when we went to Cambridge and all came up fine.
She's a medical mystery at the moment!
Her next appointment will hopefully shed some light on her results and where we go next.
sheryl37154 Griffalo
Posted
Golak Griffalo
Posted
Hi griffalo,
Do you have a positive family history for HH?
So glad that your daughter's ferritin is close to 50 now. How have her liver function improved? What was her initial ferritin?
Do you know if they checked for SLC40A1? This is a mutation for HH type 3, ferroportin disease which happens to be autosomal dominant, meaning you only require one gene to be symptomatic .
Griffalo Golak
Posted
Hi Golak
No family history of HH but my mother's side of the family has other auto immune diseases. Because they haven't been able to diagnose her with anything definite they haven't tested myself, her dad or sister so I wouldn't know.
She hit the 50 mark and they have spread her venesections out to 3 months apart. However she is still vomiting (4 times in the last 3 months) Her liver function has improved massively. Hardly any signs of iron loading in her liver and heart after last tests.
She was only near the 400 mark when 1st picked up however she was having frequent and severe symptoms all the same.
Last time I went to Birmingham we didn't get to see our usual professor and annoyingly the doctor we saw didn't have a clue when I asked. She has her next venesections in a few weeks so I will be asking again and writing to Cambridge to see if they included that in the dna test they did.
They have said that her details will go into a case study so that if any new developments happen in the future then she will be flagged. It's just a waiting game for now