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(12 Posts)
Lilythepink3 Thu 21-Mar-19 08:58:48

Hi, just looking for anyone with experiences of Haemochromatosis. It looks like I have this, just waiting for confirmation from genetic test. Feeling pretty worried about it all.


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UtterlyUnimaginativeUsername Thu 21-Mar-19 09:31:11

It's actually really common in Ireland so people in both my family and DH's have it; I'm a carrier but he's not. Everyone I know who has it just has blood taken regularly and they're fine. It's really not a big deal, once you're diagnosed. Don't panic!

Lilythepink3 Thu 21-Mar-19 09:40:15

Thank you! I have Irish heritage (& welsh & scottish), not heard of anyone else in my family with it though.

My levels are not too bad apparently, ferritin 450/530 recently and transferrin sats 83%. I think my biggest concern at the moment is worrying about my liver as I know it can do damage. My liver function tests all normal but was always prone to a few glasses of wine and my 20's definitely a blur of weekends out, bitterly regretting all the gin and tonics now!

Thanks for responding!

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OhJustElfOff Thu 21-Mar-19 10:34:55

Just a disclaimer that I've only very limited knowledge but I recall about fifteen years ago as an HCA looking after a woman who had it and a dr explaining that premenopausal women are the least likely to have problems from it as they menstruate each month but obviously needs to be monitored still. Just a thought as---- I always wondered whether that is taken into consideration when making decisions re contraception such as the injection.

BroomstickOfLove Thu 21-Mar-19 10:41:12

My father and uncle have it, and I carry the genes, but don't have it myself. Once it's been diagnosed, it's straightforward to treat, and if you don't have damage now, you should be fine. My dad had a tough 6 months of initial treatment as he had a lot of build up so had to have severe anaemia induced which was obviously not pleasant, but now he just gives a point of blood every few months, so it's no different from being a regular blood donor. The only downside is that he can't actually donate the blood.

AnnieOH1 Thu 21-Mar-19 10:52:06

Hi there, iron woman here! My genetic results are compound heterozygote C282Y and H63D, my dad is only H63D carrier but has been symptomatic for 25 years receiving regular phlebotomies. My mom refuses testing but at minimum vstries C282Y.

Hemochromatosis is the most common genetic disease in North America.

Having the defect doesn't mean you have iron overload.

For me, I have been told that given I am so young (34) and female they do not want to begin blood letting at this stage due to the risks involved in making me anemic. This may change depending on blood test results and/or menopause. I've had joint issues for the last maybe 5 years, it is currently causing me kidney problems as well according to my nephrologist but not my hematologist so who knows?

Few GPs know what it is and even the ones who do don't always associate it with an adult genetic disease in my experience. They're either aware of juvenile hemochromatosis or diet based (from supplements!)

I avoid vitamin c as far as possible with food, and drink caffeine drinks (both caffeine and tannin in tea have been proven to reduce vitamin C absorption which in turn reduces iron absorption).

It isn't a terribly well researched illness. When my dad was first diagnosed in the 90s the NHS thinking was women would only ever carry the disease not by symptomatic.

A lot of people live their entire lives with it without knowing about it. A good friend of mind's grandad was diagnosed in the last stages of his life when he was already a terminal cancer patient.

What is vitally important though is getting your iron levels checked regularly and if you have to have treatment, do it. Randomly enough my dad knew a guy from the clinic who stopped going. He was a self-employed plumber and couldn't afford the time off apparently. A good few years later we found out the plumber was the brother of a family friend. By that point he had lost his sight due to iron overload. Iron is a toxin that will box your organs over time without treatment. Generally chelation therapy isn't used in England and Wales although I believe it may be used more often in Ireland and certainly in the US.

PM me if you ever want a chat smile xxx

AnnieOH1 Thu 21-Mar-19 10:53:59

Just to add, I have to avoid contraception that means I wouldn't have a period. Pregnancy is also a higher risk time for me due to lack of menstruation. My levels were ridiculously high when I was pregnant with my youngest.

Lilythepink3 Thu 21-Mar-19 14:18:47


Thank you so much for your responses! It is reassuring to hear others are living with the condition normally. I have had no symptoms at all, 6 weeks ago just got ill and wiped out and blood tests showed high ferritin. My nerves are gone about it all. I'm 43 and have 3 little ones and feel so upset they might have it too. My consultant doesnt seem worried, says levels are ok and liver function tests are fine but I'm just worried the years in my 20's of partying have caused liver damage. I'm struggling with the anxiety.
@AnnieOH1 thanks so much for such a thorough response. I'm sorry you are suffering with joint issues and kidney problems, surely they should start treatment now if that is the case?

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N0tfinished Thu 21-Mar-19 14:40:45

My sister & I have it, she has high ferritin but I've never manifested any high levels.

As things go, it's not terrible. The treatment is unpleasant but has no side effects, no medications to take etc. As you've been diagnosed fairly young (and being a woman), you're unlikely to have long term complications.

It has never had major impact on my life. Whenever I have to get bloods done at the doctors, I ask them to add in a ferritin test. I would be careful to avoid any supplements that contain iron or Vit C.

As someone upthread mentioned, my sister had to have a fair few blood draws initially but once she was stabilized, it's been far less frequent. Maybe twice a year?

I really wouldn't worry too much. Someone told me once that it is a mutation that means you're more likely to survive a period of food instability. Don't know how true that is!!

Lilythepink3 Thu 21-Mar-19 15:28:14

Thank you @N0tfinished, reassuring to hear other experiences. I suppose I am most worried that I might have already damaged my liver and so paranoid about those after work proseccos. Did you or your sister have any checks on your liver?

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N0tfinished Thu 21-Mar-19 17:25:31

Just via blood tests & the Dr palpating my tummy. Nothing indicated any further investigation.

The only people I've ever heard of that had organ damage were quite elderly & undiagnosed.

Get referred to a hematologist. We attended a hematology clinic for awhile & they were brilliant in the early days. I was discharged fairly early on as I had no disease, but my sister found them very useful as they called her for regular testing & stayed on top of her levels.

Lilythepink3 Thu 21-Mar-19 18:29:52

Thank you, liver function blood tests were all normal so Doc says not need to follow up, just having trouble taking his word for it as have heard liver disease can be missed. Hopefully I will be referred to a haemotologist as soon as I get confirmation on genetic result, it can take 6 weeks.

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