Haemachromatosis

Just going through the final stages of investigation for hereditary haemachromatosis.

Anyone know much about it, in the context of late 40s, moderately fit-sh person who rides 2 or 3 times a week? The charity Facebook page is helpful, until it’s not.

It’s a condition where iron is not transferred or processed normally, so accumulates and can be deposited in organs around the body.  You’d think high blood iron isn’t so bad, but unfortunately it’s not available iron, so it saturates the blood and doesn’t let it do its thing.

My GP is sort of learning on the go, as it affects about 1 in 200, so not uncommon, but also not so much that he’s seen it much. I have a few questions I’m going to ask this week and have been referred to blood specialists, but don’t know when that’ll be.

Last set of bloods confirmed I’m in iron overload, but nothing indicating much to be concerned about, as it’s probably been like that for weeks.

Reading around, it looks like my co diagnosis of Gilbert’s may have helped prevent damage to my liver, and regular moderate to intense exercise has been protective of my heart, so that’s quite a relief.

Symptoms so far, are fatigue, bouts of palpitations and brain fog, oh and GI problems.

Fatigue has always been an issue, but I recognised it early and have adapted my lifestyle to manage it from my mid 20s onwards. Mostly came about due to aging, and lots of other stresses over the last 9 months to deal with, meaning I’ve had zero room for anything and increasing fatigue, and with it, GI problems, which is why I went to the doc in the first place.

Kinda feel in limbo a bit now, waiting for the blood letting to start, get an idea of what the plan is forward. Wondering if that little ache is something to worry about, or just wind..,

Can’t find anything about the condition in relatively active people, just those that have comorbidities, so have lifestyles that are quite different. The research suggests that once it’s managed, I should be ok, but I’m not sure about the journey from now to then!

Anyway, as always it’s good to write these things down to get them out, and I’m interested to hear of any other cyclists who are living with it.

Not something I know much about so had a quick search and found this.  Maybe useful
https://www.haemochromatosis.org.uk/

I know a couple of people diagnosed with it in their 40s/50s and, other than regular bleeding at a clinic to remove iron from the blood, lead active (football, cycling), regular lives. My OH used to work in the NHS diagnosing it and says that it isn’t anything to be particularly concerned by if you follow medical advice.

My mate lives with it and has no problems, just has to put up with the regular blood removal. He is fit as a fiddle, no issues with riding or running etc. I think it’s a very manageable condition 👍

Edit to say he’s in his late 40s

Thanks, that’s good to hear. I hope I’m i a similar position, no indications of problems, mildly symptomatic at the moment, but there’s been very little information or advice about what I can or can’t do while in overload, whether I shoud be resting, or just carry on as my body allows.

I fel like a bit of a fraud on the facebook advice page, everyone else is talking about massive ferratin levels of 1500+, they’re talking about their issues like cirrhosis and I’m looking to post about being able to ride my bike!

thanks for the replies.

Let the blood-letting commence.

How is Gilbert’s syndrome good for your liver? I have this (mildly) and thought the positive of higher bilirubin is that it’s cardio-protective. Is it something specific with the bili interacting with ferritin?

Sorry to hear about this Wookie, but glad to read that it is manageable.

How is Gilbert’s syndrome good for your liver? I have this (mildly) and thought the positive of higher bilirubin is that it’s cardio-protective. Is it something specific with the bili interacting with ferritin?

I may have it back to front tbh, so I think you’re right.

The gilberts is either a common co condition with haemachromatosis, or the elevated bilirubin is a response to it, from what I’ve read its not clear why there is the commonality between them, but yes, it’s one of the reasons the primary organ of concern is the liver.

Gilberts doesn’t always come with haemachromatosis though, which is why it’s thought it may only display like Gilberts.

excercise is supposed to lower ferratin, but also I read that it can condition your body to not rely on normal oxygen transfer. I’ve not looked in any more detail than that in the journals, but I’d guess it’s like increasing anaerobic threshold, sortof. .

guess that’s fine if you’re not in overload, but the last set of bloods, my transferrin saturation was 99%. so I have loads of iron, but not a lot of available iron.

I’ve been keeping things pretty steady on the bike, an hour of moderate riding, 2, maybe 3 times a week. went out sunday for a couple of hours in the woods and legs felt strong to push up sharp climbs, and could spin ok, but in between effort just felt like I was breathing treacle, which sort of makes sense.  Will be leaving riding till I feel like i’ve recovered properly.

Waves to lovewookie, off for a Venesection at 4 this afternoon, I also have high Haematocrit so if its not the iron its the high red cell count meaning another draining.

Along with all the complications from my Thyroid going haywire, AF & Central Sleep Apnea! I’m getting fed up with blood being taken 😮

I don’t have the markers for hereditary haemachromatosis either.

I can imagine.

my hereditary haemachromatosis was picked up about 5 years ago from an Ancestry DNA add on thing. I however, held it in the same light as the other ancestry stuff as a bit of a guestimate, so did nothing with it. hindsight and all.

it suggests I have 2 gene copies, so a high risk of developing haemachromatosis, but you know, feels a bit odd going to the doctor, without obvious symptoms and saying, I got this test of teh interwebz….etc. plus I’m male, so don’t do doctors unless a limb is hanging off, don’t want to bother them as they have real paiteints, etc etc…

well, not quite that bad, but it has changed and I use my doc a lot more.

My old man was diagnosed with it a good few years back. Lots of fatigue and took ages to diagnose but basically he went from being quite active to needing a nap as soon as he did anything. Took a long time to diagnose.

From what I recall, they took a pint of blood a week for a few weeks then dropped it back to monthly and then very rarely but it doesn’t cause him any issues now. I’ve asked about it a couple of times from a hereditary point of view and been told on both occasions not to worry about it unless I get symptoms.

From what I recall, they took a pint of blood a week for a few weeks then dropped it back to monthly and then very rarely but it doesn’t cause him any issues now. I’ve asked about it a couple of times from a hereditary point of view and been told on both occasions not to worry about it unless I get symptoms.

that’s realy interesting. I thought the ‘early management’ was key. but I’d guess you just need to keep an eye on fatigue levels, especially as you age (no idea how old you are BTW)

I was mid 40’s and diagnosed with Haemochromatosis 5 years ago.
The fatigue was the main symptom, I just couldn’t rest and recover. I saw a great doctor who was on the ball and ordered a gene test early on. The rest of the family were also tested.
Treatment consisted of blood letting 450ml every other week until my ferritin levels were at normal levels, which took a few months. The tiredness took a similar time to improve. Now the treatment is donating blood every 12 weeks, which has kept my levels steady so far.
Hope you get started with your treatment soon. 👍

I used to (as an onco-haem) nurse regularly relieve patients of their excess cells. Most of them thrived after the first few instances, when bloods normalised. It sounds like they’ve been fairly on the ball, you sound fit otherwise, and I expect you’ll be fine.

*Waves*
That’s me.
Brother has it, dad has it, in fact of 36 cousins, 28 have it. I was diagnosed 3 years ago, and it took until Christmas 2022 before I needed treatment.

I’ve got my Venesection next week. Currently on bi-monthly after initial two months of weekly. So far, I’m feeling more energetic. BP has come down and other indicators are good, but it needs to come down more. I’m intrigued to see where I settle with Venesection. My bother does fortnightly and has been for about 4 years.

Curse those Irish genes of mine…

@matt_outandabout great that youre feeling more energetic. I’m looking forward to that! currently feeling like I’ve got vertigo and not a huge amount of capacity.

genetically I’m a bit all over the place. Mums side is welsh, but I always thought that my dads was English, but no, norman and scandinavian and  a lot of scottish, traced back to shetland.

bloody celts.

😉

Mums side is welsh

Same here – I’ve memory of my great gran in Welsh bonnet and heavy Welsh accent. Turned out her family were Irish emigrants in the last of the famines…

And I’ve Scottish (Gunn clan) genes on my dad’s side, who apparently also had a thing going with the Irish.

So for our family it’s come down both sides, hence why so many of us have it.

General gist among the few cousins I have contact with is it’s perfectly manageable, if frustrating you need to vampire yourself.

Still in lmbo.

Had specialist appointment a week ago, but it was more bloods and a bit more of a thorough examination. Genetics not back yet, so they can’t make a diagnosis and start treating without it. So, another appointment at the begining of August.

I’m taking that as a good thing as it’s not an urgent appointment based on what they’ve got so far.

I’ve now been hit with Covid though. First time since the start of the pandemic. I don’t really get out that much, so it was either picked up at a meeting I had last tuesday, or the hospital on the thursday. It’s not pleasant and although the covid now is’t the beast it was, I’m still a little concerned of any impact of iron overload whilst trying to recover.

I guess that managing to recover from the fever relatively quickly is still a good sign.

Ugh, the COVID is bad luck, sorry to hear that. Hang in there.

Sorry to hear that, COVID sucks.

I’ve just had 500ml of blood extracted this morning at the hospital – the good news is my levels mean I might be on 4-monthly 500ml or 250ml, instead of 750ml every month that I did through the winter.

Thats tough luck Wookie hope you recover well.

I’ve just had 500ml of blood extracted this morning at the hospital – the good news is my levels mean I might be on 4-monthly 500ml or 250ml, instead of 750ml every month that I did through the winter.

That’s great news Matt.

Covid does indeed suck. vomiting friday, fever saturday moving to a sinus thing sunday and spikey fever, that dissipated, left sinus blockage and I could feel it creeping into my upper respiratory tract over monday and tuesday. fever has largely gone, apart from the odd blip, but I’ve shared it with my wife, cos I’m nice like that, so she’s a couple of days behind me symptomatically. I’m feeling OK, just residual head cold and cough feeling, so not to bad all things considered.   oh, and the lack of taste/smell, not as clear cut as some have reported, but it’s odd. Soup is just wet and lumpy, rather than flavoursome.

problem with limbo, and my ASD head, is that I’ve little way to filter out what the possible outcomes shoud be, or how to weight them. so I end up, regardless of any evidence of non urgency I get from the GP, and now from the specialist (albeit they were Speciality registrar), I go down the worst case. if I can deal with the worst case, then can deal with anything, apart from worst case is pretty catastrophic, so I get very very anxious about it all.

Last bloods results I had I was fine with, for a day and a half, then I had a proper panic meltdown over the phone with the GP. I don’t think he was expecting that based on the person he’d met and discussed things with. I do mask very well.

Thank fully I’ve now become a member of Haemachromatosis UK and will use their specialist nurse advisors if I have any incidents like that. It feels a little safer now that I have a route for knowledgable and experienced individuals. Might not stop me tying myself in knots the odd evening, but at least I can park it for a bit knowing I have access to information.

currently it’s, ‘what if genetics tests show i don’t have genetic haemachromatosis?’ weighing up the likilihood of a premature death either from kidney failure or leukemia. lovely. But I also don’t really want to phone and find out…..as my big boy pants are in the wash with the other covid stained stuff.

My cousin, in his 50s was diagnosed after symptoms including fatigue. From there on, genetic testing is ongoing through the family. I (female, 50s) have two genes for it but fairly normal iron levels. My male cousin has been going through the regular blood letting and from his strava I can see he’s riding his bike pretty regularly again. A female cousin (50s) is also on the regular blood letting route.

I had an opinion from an haematologist that haemachromatosis is a genetic adaptation which gives an advantage to populations where getting enough iron rich food is a problem. He offered up a suggestion that if I didn’t have the genes for it I’d probably be anaemic but in fact I’m just very efficient at managing on low iron intake. Who knew. I am careful about iron intake though, to the extent of carefully reading the labels on bread as both non wholemeal bread and also cereals are fortified with iron.

I had a couple of weeks of stressing and looking at my diet, even though I probably didn’t really need to.

@lovewookie – I have it, was diagnosed a couple of years ago, due to my sister finding out she has it.

I’m more than happy to have a chat about it, for you or anyone else – open invite. Send me a PM if you want to talk / email etc.

It’s really quite simple once you get past the “bizarrely dumbed down hence more complex than it needs to be” information that’s generally shared.  Diagnosis beyond the SeFn (blood iron level) lest is a genetic test which it sounds like you are waiting for the results from.

Re Hemochromatosis itself –

Treatment is basically very enthusiatic blood donations. My SeFn level was about 1,500 when diagnosed – normal range is more like 50 ish from memory.

I did weekly venesections (just a medical term for blood donation) – needs to be at a hospital and then did regular checks of levels of all sorts of things and the normal recommended frequency for donation is once every 12 weeks. It was a bit tiring for a while – your body is permanently diverting energy to making fresh blood (which uses up iron, which is the whole point).

Once it’s down so normal levels it’s just a check every so often and in my case I donate blood every 12 weeks – no different to a normal enthusiastic blood donor.

As part of initial diagnosis they will also check for liver, heart function etc and it’s likely to have an MRI scan to look for any deposited iron.

facebook advice page

I’ve learned to ignore those. A lot of people blaming just about everything imaginable on Heamachromatosis and advising all sorts of wierd diet and supplement tips.

The advice I’ve been given it to eat a normal, healthy diet and let venesections control iron. One VS is worth something like a hundred steaks or some other odd measure.

@whatgoesup thanks for the offer of a chat, that’s much appreciated.

I’ve learned to ignore those. A lot of people blaming just about everything imaginable on Heamachromatosis and advising all sorts of wierd diet and supplement tips.

yeah, I looked, then decided that it was an end of the spectrum that I wasn’t at, so didn’t look anymore at that.

I’m just looking forward to when I can get back out on my bike. thought I may have been abe to last weekend as I was feeling OK, but then covid….

still, I have a wheel to build, some bearings to change, maybe more tyres to sell, clear out the shed, fit some new smoke alarms in the house..

Quick visit to the doc today to look at genetic tests after quite a few weeks wait. Confirmed I have two gene copies for hereditary haemachromatosis.

Specialist appointment in a couple of weeks, hopefully they’ll start to bleed me soon…

Feels like I’ve lost summer. Don’t think that I’ll be getting much of this one either.

Hey ho. This bit of time is at least allowing Mrs wookie and I time to consider campers.

stared treatment last week straight after the specialist appointment. had my second venesection yesterday. They seem to be going OK. yesterdays was worse than the first, feeling pretty tired afterwards and into the evening, had nearly 9 hours sleep last night and feel OK today. not great, but OK.

one unexpected thing though, when I first had my ferritin tested a few months back, I was up at 811 or something, in the end of june, at my first consultants appointment, it was measured at 836. last week I had bloods done, 2 weeks post end of covid’s 2 week symptoms, results in yesterday and ferritin was over 1200. My goal is to get it between 30-50 so an even longer way to go. maybe.

We think that, as I had covid, that dramatically increased my ferritin levels as an immune response. There’s plenty of information out there to back this up too, although I don’t like readng about high ferritin in deceased people due to covid. gives me the fear.

Its not been flagged as an issue, I’ve now, to date had two units out, so hopefully that helps. I’m also hoping that there is a natural rebound of ferritin post covid and it wont jump and get stuck if I get it again.

back next week for more bleeding..

Apparently my ferratin was all over the place through December and January, when I first started and was on weekly venesection. I don’t know the figures.

Now though we seem to have settled – around 45/50.

Now on quarterly venesection.

I have just had my second liver check with the weird flicky finger machine (fibrascan?) and apparently it is good.

I have just had my second liver check with the weird flicky finger machine (fibrascan?)

ooh, not been told about that. just an ultrasound, but a flicky finger machine sounds almost erotic 😉

I’d guess it’s a slightly more advanced version of percussive technique.

Apparently my ferratin was all over the place through December and January,

good to know it’s pretty normal, the nurses did say that they can fluctuate quite a lot, but I guess in my case covid didn’t help.

Interesting…

35 years old, been dealing with fatigue issues every 6-7 weeks getting slammed and laying in bed all weekend with fever like symptoms. Thought it was due to dresses of job/new baby/COVID after effects but after after the 6th or so time sick and off work for a week I was marched to GP by Mrs Explorerboy.

GP sent me for bloods and suspected glandular fever. Bloods came back and I’m 60% over the max for iron levels and need a re-test. It’s not something that runs in my family BUT I’ve stopped taking a multivitamin with added iron and feel much better in myself overall…

That’s interesting, I hope they get to the bottom of it.

You say no family history, but I’ve none as far as I knew either, I’m the first to be diagnosed.

It’s not something that runs in my family

We didn’t think it did until my brother had health screening for a job. This triggered all cousins being tested, and at last count over 3/4 of us have it…

Worth waiting for a few more tests and views on things.

Good news is that it’s very easily manageable.

4 venesections in now. It’s going ok, weird, but ok.

2nd seemed to be the most tired after, 3rd not so bad, 4th went well, ferratin now back at 860, so pre covid levels. Was a bit tired the evening after it, but the day after I was floored. Felt like I was being held down in my bed.

Thankfully I’m on annual leave for a bit so can chill.

I was fine the next day though.

Riding the bike has been intermittent.

First ride I did since venesection started was a bit of a shock.

Normal hour long loop I do before work, got halfway round and had to turn back. Just nothing in my legs and HR rocketing pretty quick to 170+.

Figured if that’s how it is, let’s try something a little steadier. I can do a pretty flat 6 mile loop straight from the house.  It’s 50% tarmac canal path and 50% single-track.

I’ve done that twice this week so far. Both times aiming for a steady ride. Both times feel ok for about 10 min or so, hr is up at 170+, then levels at around 150-160, which is still more than I’d like. But then there’s no push in my legs. I can turn them, and probably put in a bit for sharp short effort, but just turning the cranks is all there is. They feel hollow.

I’m not surprised really, it’s just weird the stark contrast, even from when I was staring to feel off. However, a pint of blood off a week, kinda makes sense.

Post ride I feel like I’ve been out for hours, not 30 min. Noticed that I’m more dizzy after standing up from seated, which lasts a couple of hours post ride and feel a bit wonky for a little bit.

Next ride will be much steadier, keeping an eye on the HR, and keeping under 170 to see if that helps, but it may just be what it is.

Consultant did say that going for a ride is ok, but I’ll discuss with him more when I see him in a couple of weeks. Helps that he’s a cyclist too so understands what value cycling has to me and appreciates what a normal ride is.

Normal hour long loop I do before work, got halfway round and had to turn back

Hopefully things will improve, maybe next time you’ll get 3/4 of the way round before turning back 🙂

Sorry, nothing useful to add, it just made me laugh.

I had similar issues immediately after having my first Astra-Zeneca booster, extreme fatigue, brain fog, I couldn’t remember how to drive to places I went every day, terrible ocular migraine, a range of GI issues initially I could only describe as a sicky hungry churning feeling later followed by extreme pain and unexplainable bleeding.  Bloods showed my iron levels were through the roof but came back down gradually, genetic test showed I had one of the genes so was prone.

I perhaps stupidly allowed myself to be talked into having the next booster by medical professionals and guess what? Much better now but never got completely back to normal.

Sorry, nothing useful to add, it just made me laugh.

Haha. Yes, not quite what I meant. But halfway on the outward bit!

When I was doing weekly venesections I learned to go to bed REALLY early on the day I had it – seemed I needed a lot more sleep that night, otherwise the next day was pretty rotten.

I got into a pattern of biking towards the end of the cycle, i.e. nothing for a couple of days after a VS, very gentle for the next couple of days and a more “proper” ride in the day or two before the next one.

After posting up there somewhere about my dad having had it, looks like I’m heading for the same diagnosis!! I’ve been struggling with shortness of breath and chest pain for the last few months when exercising and whilst I’m first to defend the overworked NHS and GPs, they have been shit in this case. Finally got some bloods done after weeks of being fobbed off and high ferritin over the trigger point for haemochromatosis (but not massively high). Blood test wasn’t valid though as apparently I should have done a fasted test and no one told me that. So more bloods required and then prob referrals. The shortness of breath is usually a later symptom I think but it’s exactly what my dad had apparently – feels like I can’t get a proper deep breath and if I exercise hard my airway feels overstretched and burning.