Does anyone know anything about haemochromatosis?

[OstrichRunning]

Just got bloods back from gp. My transferrin saturation is 79.1, which I understand is suggestive of haemochromatosis - iron overload. Sort of have my head around that not being the end of the world, as I'm in my early 40s so hopefully not much damage has been done. But the weird thing is my bloods also say my ferritin is 28.5, which seems on the low side of the normal range (11-307).

Is it possible to have low ferritin and haemochromatosis? If not, then does anyone have any ideas of what could be causing this?

Thanks so much. Have booked in for repeat bloods in four weeks time and will make sure the genetic test is done then but in the meantime can't help worrying...

The thing with haemochromatosis is just because you have been told you have the genes it doesnt mean you will develop the condition. Haemochromatosis is only diagnosed when you have the genes + high ferritin and elevated transferrin saturation (over 50%). Many people will find they have genes after genetic testing but never go on to develop the actual condition. Is good to know though so you can keep an eye on it. The Haemochromatosis UK website and Facebook page are really good for info.

Thank you Lilythepink3. That’s really helpful.

Lilythepink and EdtheBear, thanks so much for that info, that has really put my mind at ease! It looks like I might have it then but caught it early ... I do have achy hands which tested negative for arthritis so possibly that is a side effect (if I have it) but just noticed on my bloods that my vit b12 levels are borderline low so maybe that's what's causing that.

Anyway, thanks again, feel really reassured now.

Powerplant, thanks for that Radio 4 interview, will check that out.

OstrichRunning I was terrified when diagnosed but really it's ok. It can cause aches (also arthritis if left to go to high levels). Check out the Haemochromatosis UK Facebook page, it is really friendly and you will see that most people have much higher levels and are doing ok! The good thing is you know about it, I think the stats about diagnosis is something like 1 in 200 have it but only 1 in 5000 know about it! Doesn't seem to be much research about it but then it doesn't involve any drugs so no funding from big pharmaceutical companies! (Although apparently there is a trial for a new drug that replaces hepcidin which is a protein I think and people with haemochromatosis don't produce enough of it). I knew nothing at all at beginning of year, learnt everything from the Haemochromatosis UK site, Docs been pretty useless!

Actually I think GPs and docs in general are becoming more switched on to it.
Could be pure coincidence but my Aunt was diagnosed through trouble with arthritis. About a year later I was picked up through a random blood test for fertility issues.

I'll check out that Facebook page, thanks. I'm so surprised at how high the rates are, especially here in Ireland. You'd think the faulty gene would be something they'd test for at birth, alongside all the other things they treat for with that heel prick test. It seems to be a straightforward blood test!

Anyway, glad it's been picked up on as you say before it got serious. Thanks again, I was so stressed out before, your comments have really helped

There are moral issues with testing children.

Given it's something that doesn't generally cause issues or need treatment until adulthood no real reason to test for in children.

Children / Adults have a right to not to know. Remain ignorant / kept in the dark / hope it doesn't happen to them. I can't remember the term the exact term the Doc used. But basically testing them before age of 18, interferes with the child's rights.

Sorry posted too soon.
I did ask about getting my children tested but was told no because of their rights

Even if the gene test is positive and the child has inherited the mutations they still might not develop the condition. Knowing you had the genes could be stressful, like a ticking time bomb but they may never develop haemochromatosis. Would be awful if it affected decisions like who to choose to have children with etc. The genes are so common, will be loads of people with both genes doing just fine with normal iron. Guess we are just the special ones 😉