Update and query about waiting times - should I go privately?

Thank you for your reply.  I send all my very best regards to Joe and hope he gets some relief.  He's so lucky to have a friend like you. 

Thank you for your reply.  I'll probably just wait and see, then.

Hi Marie,

I think, because of family history & the lack of full understanding that doctor's have about this condition, I've got the thought in my head that it may be possible to store the iron in the organs before it begins to show in the ferritin levels in blood tests.  My mum is crippled with osteoporosis & has so many symptoms of HH (terrible iron fists on both hands) but in her 80s shows no signs of iron loading in the blood.  She hasn't had the gene test - doesn't want to, so we can only guess that she must be a carrier because of me being compound heterozygous & brother being homozygous for C282Y.  My dad had heart problems and blackouts from age 50 - his male line all died early with heart trouble.  He had beautifully straight fingers as did his whole family.  His sister is still alive but after years of mood swings she now has Alzheimers.  Again, he has to have been at least a carrier but he gave blood for many years and nothing was noted about him loading iron.  My brother is loading iron.  

Is there any evidence that the different genes cause a different sort of iron loading?  Maybe one shows in blood/ one destroys organs first and foremost?  Or am I just getting totally paranoid and attributing all of my previous symptoms from tiredness, period problems, skin problems, miscarriages etc... etc... to HH.  Maybe I just need to get a grip and put it out of my mind until I see a specialist.  

Thanks for your kind words :-)  

You have not provided your ferritin iron and TS% levels.  With all those symptoms and if they are not contributed by menopause and lack of oestrogen, you may have had a very high untreated ferritin level for a long period in the past which caused that damage, but now something else is happening to stop your ferritin getting high again, i.e. internal bleeding, ulcers, polyps.

Damage will not happen without continued high ferritin levels and if your ferritin is low now, you are not likely to be venesected.  So I am saying the damage has occurred earlier.

Venesections will not reduce joint problems, once done, its done.  I had to end up seeing my haemotologist privately as I kept being bumped off the public list.  The haemotologists who have private practices do have more time set aside for private consults.  I would definitely go for that to see what is what, if that is at all possible.  Be assertive with your questions about your symptoms, and try not to let any go unanswered.  You want everything investigated.

As you are of menopause or postmenopause age, you may be fobbed off as that being the cause.

 

If your brother is homozygous C282Y, then both your parents had a C282Y gene.  And one of them has to at least been compound heterozygous C282Y/H63D.  Given the symptoms that both have/had, then I would guess that both have two genes - unless you have a sibling who is only a carrier, then one of your parents can only be a carrier.

A blood bank would not pick up that a donor was iron loading.

That's a very good question - about whether different genes cause different complications.  I often wonder myself.  Homozygous H63D are known to be prone to some different complications than Homozygous C282Y, deemed the aggressive one.  But compound???

Check out Irondisorders Institute - H63D the other mutation.  As the Celts and the "Vikings" (Scandinavians) are reported to have started it all, I often wonder if one lot passed on the C282Y gene and the other lot, the H63D gene.  Of course, then there was the melding of the two when the Scandinavians moved in on Ireland, Scotland, England.

Hi H

As I understand it, your serum ferritin is the marker which shows that you are loading iron.  From memory, I think you said that your ferritin was circa 180.  This falls well within the normal range.

Your ferritin would need to be higher than 250 and getting higher in order for you to load iron into your organs.

My mother's family had a history of heart disease and she died from heart disease at the age of 47.  At the time I requested a copy of her post mortem examination ( I was 27 ) as I was so shocked at her sudden passing.  Years later, when I was diagnosed with Ferroportin disease, I asked the consultant whether there was any evidence from the post mortem examination if my mother had had haemochromatosis.  All of her organs were fine apart from her heart which was enlarged.  There was no evidence to suggest that she had this disorder. although, I believe the mutated FPN gene has come from her side.

I can fully understand your concern, especially as your family members have so many of the symptoms of iron overload, but as always, these symptoms are so similar to other conditions.  I am wondering if your mother has had x-rays on her hands for her condition.  If she has haemochromatosis this would have been highlighted as there is a definite signal on the x-ray.  It shows up like cotton wool around the joints affected.  I have seen pictures of it on the web.  My hands are painful and in the joints that haemochromatosis affects, but when my hands were x-rayed this cotton wool shadow did not show up and so I was told that there is no evidence of haemochromatosis in my hands, even though they are painful.

I don't know if the different genes cause different loading patterns, I would have to go searching on the net to find out.   I don't think the organs can load without a high reading of your ferritin.  Usually, the cases that I have read where patients are diagnosed with organ problems, their ferritin levels are quite high.

Best wishes

Marie

Hi Marie,

Thank you for your reply.  The only time that mum had an x-ray on her hand was about 30 years ago when she broke it.  I bet she won't remember whether her joints looked woolly but I'm seeing her today so I'll ask.

I see that the Australian Haemochromatosis society are asking for volunteers to do special tests.  That's good news as it shows that more will hopefully be found out about the condition :-)

Many thanks, again.

H x

 

Thanks for your reply, Sheryl.  My Serum Ferritin was 84ug/L - there is nothing on the print-out about TS so I don't think that was checked.  I found out that when my brother was first diagnosed, he had 248 ferritin iron which I don't think is high (?) but because he was homozygous C282Y and also had serious liver damage shown in a biopsy, they started to give him venesections and his symptoms then eased.   Over the past 10 or so years, between venesections, his levels shoot up, despite them being low originally. He lives in the States so things are dealt with differently, there.

I am going through the menopause at the moment - started when I was around 39.  I have a period about once a year, now!  

I don't think there's any internal bleeding - at least not in my stomach as I had an endoscopy recently - all normal.  

Thanks, again.  I may leave it for a little while and then see if I can get referred privately.

The recipe book that you recommended has just arrived!  We ordered it, in the end, as the libraries here didn't stock it.  I'll go and have a quick read

H :-)

I checked out that article and printed out some of it for my family - really interestng.  I'll check out the Viking and Celt links when I get a chance.  Interesting since mum's family are predominantly Northern French/Swiss and dad's were Dutch/Irish.  Hmmm.

Thanks, Sheryl, you obviously do lots of research.

:-)

Hi Haircrazydaisy (again!)

Just reading this post of yours and again, you are doing the same thing I am doing - trying to look back and work out if the family history has any connection

If you are C282Y/H63D and your brother is C282Y/C282Y then at least one of your parents must have been C282y/H63D. That is the same as my situation. I have one brother and two sisters. My brother and younger sister are C282Y/C282Y and me and my older sister are C282Y/H63D. In other words, there is not a normal gene amongst us! So I have worked out that either one or both of my parents must have been HH. Both my parents come from Irish Catholic backgrounds - very common in Liverpool where I live. My brother is in venesection but both my sisters seem to be fine at the moment.

My mum is like yours, she has her ferritin checked and it is normal but she won't have the genetic test. I think she feels that she will be to blame for something - although I have reassured her that none of us see things that way. She does have a long history of arthritis, osteopenia and now hypothyroidism - all things I believe can be connected to HH.

Unfortunately, my dad died in 2003 before any of us knew about our diagnosis. Looking back, I think he probably did have HH - he had a very 'swarthy' complexion, various joint problems etc. But he was one of these aging hippy types who didn't believe in doctors. He lived alone, liked a smoke and a drink and basically, although I noticed he was losing weight and looking tired, he kept fobbing me off about going to the doctors. He told me he had been to the GP which turned out not to be true. When he had a sudden stroke he rang me rather than the doctor!! He also turned the paramedics away and I had to ring the GP to do a home visit!! The GP letter said, 'infrequent attender' and he was admitted to hospital and died within a week with carcinomatosis. He had cancer everywhere - brain, liver, lungs. He was only 66.

This has scared me and I think that we as patients need to be as proactive as we can at getting the treatment we need.

You mentioned in your original post 'should I go private'? I don't know where you live, but in the UK you can get seen within the same week by any specialist you choose for an initial consultation. I think the cost is about £150. I don't really believe in private medicine as a staunch believer in the NHS, but I have to admit, if I don't get any joy at the GP on Wednesday I am seriously considering a private appointment with a haematologist or at least to pay for a T2* MRI scan of my heart.

I really feel for you when you say 'maybe I just need to get a grip'! That's what I keep thinking, but all these things play on your mind. At the end of the day, we just want answers so that we can understand.

If it was found that I definitely did not have iron in my organs I would accept it and move on, but the worry is getting to me and I feel that I need to know one way or another.

Keep going and best of luck!

Hi BikerBlue,

Thanks for your comments - it's always good to know that someone else is in a similar position, isn't it?  

I keep up to date with all of the posts on here although I don't always comment.  I've been reading your posts to Mac with interest.

Like you, my dad has now passed - he started with unexplained "black-outs" at around 50 years old.  I think I've already posted that the males in his family had a long history of early death from heart failure?  I'm now thinking this was probably HH.  Dad didn't have the "iron fists" - perfectly straight fingers - but he did have chronic problems with an arthritic ankle and knee problems.  

I don't know about you but I'd love to find out more about which gene is connected with Celts and which with Vikings.  I read something yesterday - think it was the Australian haemochromatosis website - saying that originally the genes mutated to help both groups cope with a lack of nutrition in their diets.  I suppose it's similar to the mutation of cells with Sickle Cell which helped people survive malaria.  Nature is amazing, really.

In terms of ancestry - we have Northern French on mum's side and a mixture of Irish and Dutch on dad's side.   

Yes, I think you're right that we need to be proactive and also find out as much as possible about this condition.

I'll be interested to see how you get on 

Hi haircrazydaisy,

Yes, it is interesting about the genetics and the history. I think as time goes on, more and more information will probably come out. A friend of mine is doing a DNA ancestry thing and encouraging people to get their DNA tested to see where they are from. I haven't done it yet (I think the kits cost about £100) but my sister has and she got 97% Irish, 2% Russian and 1% Pacific Islander. I don't even know if that is accurate or what it really means but it was fun!

I will definitely keep you updated and let me now how you get on too

The bit about the diets I don't believe - I think they got it from an Irish website.  If anyone knows anything about biology and botany, they would know that there is iron in the earth all the time - even in the Sahara Desert.  That is why whereever there is a waterhole, and date trees are growing, the dates are full of iron, drawn up from the ground.

If all they needed for nutrition was iron, all they had to do was stick their finger in the ground and lick it.  Every plant has iron in it, as does every animal.   Only plants in pots become insufficient in iron if soil or potting mix not replaced.

Both the Celts and the Vikings were very much involved in the use of iron in their pots and pans, armour, food storage, etc.  They must have also mined it to get it.  They brought in the Iron Age.  I can only think that over the centuries of absorbing this iron through their skin and food, it changed their dna.  There does not appear to be any research about it.  Any reports of Celtic history does not say anything about HH, even in restrospect.  The Celts also moved throughout western Europe long before the "Vikings" did, spreading their dna.

However, anyone with HH who watched the first series of "The Vikings" with Ragnor ?, would have seen hints of it.

There is a lot of mythology about HH, as you would have discovered.   I am also interested in which gene is connected with Celts and which with Vikings (or Scandinavians).  Because the Vikings were the marauding warriors.  they were then followed by the ordinary Scandinavian people, who were farmers, who no doubt mixed their dna without killing people.  My money is on C282Y Vikings, and H63D Celts.

If you find anything if this regard, please send it to me.