Before being Diagnosed

Hi Michael,

I'm having the same trouble. Fighting to get the right diagnosis. I have always had very high haemoglobin levels - when I was pregnant, each of the three times, I was told, towards the end of my pregnancies, when most women were being given iron, that my levels were higher than those of most people when they weren't even pregnant.

Now I am post-menopausal, so the iron is building up in my system. I had bad IBS and so for a number of years ate a diet with very little carbohydrate - just things like steak and salad! Duhhh.....but it did help the IBS. Until one day, while chatting to my doctor he cottoned on to the fact that high iron levels can irritate the bowel. This started me on a path researching iron overload. I persuaded him to do the test for Hereditary Haemochromatosis. There are two markers and one came back positive and one negative - and oddly (wouldn't you know it!) the one that most people have as negative, in my case was positive, and the one that most people have as positive was negative. They have no idea what that means. They just don't have the knowledge as yet.

For the past 18 months we have been monitoring my serum ferritin levels etc., and they are steadily rising, in spite of the fact that I have given up all red meat and food and supplements that contain any iron. But the Consultant doesn't seem to 'get it'. He hasn't looked at the whole picture. A couple of weeks ago I spoke to the doctor once again, and he has written to the Consultant asking him not just to look at my HG levels and say how good they are but to look at the total results over the period of time.

Meanwhile, yes....my finger joints are becoming lumpy and painful, as are my knee joints. My back also aches just about every day too. I tried to walk a short distance on June 19th last year, and felt like I was walking through glue. The next day I collapsed at home, and could hardly talk, as my voice became whispery and faint. So I too have been diagnosed as having CFS/ME/Fibromalgia. I have the tiredness and fatigue. I'm a Consultant Astrologer, so I sit at my desk working every day, but am trying to build up my strength by every other day, getting up every half hour and walking fast for 10 minutes. (I put on my iPod, and my walking music of choice right now is 'I Heard it on the Grapevine' by Marvin Gaye. Just the right speed. It runs through three times, which gives me about 10 mins. )

It's a constant and wearing battle isn't it Michael. Hopefully we'll get there in the end. Wherever there is!

Hello Michael,

I was diagnosed with Haemochromatosis 2 weeks ago after having blood tests.

I've actually just got back from having an ultrasound, a biopsy on my liver is to follow.

My symptoms were extreme tiredness and lethargy. I put this down to getting older, I'm nearly 45 and working 6 days a week.

Also for the last few years I had become irritable at work and home. I had mood swings. I used to consider myself pretty easy going but the slightest thing tends to get me angry.

This upsets me as it's not my real

nature.

I've also been feeling depressed.

I'm hoping that now I've been diagnosed and am soon starting phlebotomy that I'll start feeling more like my old self again.

My symptoms weren't nearly as sever as some of your - but when I was diagnosed my ferritin level was only at about 600. They took a series of blood tests over a period of about six months (including an hereditary haemochromatosis test) before concluded that that was my issue.

For me, the main symptom was just fatigue. Although when I say that, we all know that fatigue in itself has many symptoms of its own. I was tired all the time, I would take a nap when I got home from school/work pretty much every day and I found that I couldn't focus as well as I had been able to before. My anxiety also really picked up (but I've always struggled with that, but I'm certain that HH didn't help it). I also remember, and I don't know if this was related, but for about a month before I went to the doctor, for some reason I found that whenever I would look at a computer screen, I would get nauseous. I'm not sure why - maybe the light from it was hard on my eyes due to fatigue?? I don't know. I just remember that happening around the time I started to go in for blood tests.

It didn't take me long to get my levels down to normal since I only had to go down about 550 points. I think it took about six months or so. When I first went in it was every two weeks which lasted for about two months, then three weeks, four, six, two months, etc. Now my specialist thinks that I might not need another phlebotomy until I'm in menopause (I'm 25 now with regular periods). As of January 20 my ferritin level is 59 (but I've had my period since then so it'll actually be less than this), and six months from now I'll get tested again. So I guess for me I'll only have phlebotomies once it gets to a certain point. I think he said 75 was when I would need another one, so long as I'm feeling good.

Still, my main battle is just with fatigue. It's hard to say whether it's really from the HH. I felt great last summer when my level was at about 48. So maybe that's my optimum level. But since then I've moved Provincies (I live in Canada), gotten a new job, and my bf and I have just moved into our own apartment again and we're finally getting settled after about 6 months of being here. So it could also be because I've been more stressed and anxious. We'll see. 

25 years after onset of severe symptoms (after having hysterectomy) and then having to wait 9 years for a diagnosis, in the meantime I am staggering and slurring, left side chest pain and then one day, my left hip broke up.  Osteonecrosis - my blood was so thick with iron it blocked the finer capilliaries that feed the bone.  Then I got a diagnosis because the radiologist knew what was wrong.  25 years later and people are still having the same problem getting a diagnosis.

A simple damned Iron Studies test is all that is needed.  Every dr should do one as a matter of course - every year if first one ok.  Don't be fooled into thinking that every blood test has been done on you when you are told you are having a Complete Blood Test or a Full Blood Test.  It does not include what the Iron Studies does.  You should not have to endure a liver biopsy.  A brain scan is good to have in your belt for future reference

HH has been known about since sometime in the 1800's for goodness sake!  One in 200 have HH, among the Irish it is one in 80.  One in 7 are carriers!  Get angry people and do something about it.  Contact your country's HH organisation.  Join or start a support group.  Get involved in HH Awareness week and spread posters and brochures around everywhere, especially in medical facilities.

This is what I did, plus talking to medical students, pharmacy interns, health shop people (so they don't sell iron supps to people who complain of fatigue), service groups if you don't mind public speaking (I am horrified by it, but made myself do it), apply for stalls at health expos - people lined up to talk to me about HH.  Last Sept, the top haemotologist in my city told me that there has been an "explosion of HH diagnosis" in our city, so I guess my campaigns worked.

No, I can't work anymore either, and doing the above was so demanding I have to take a break now.  I had to have both hips replaced, and one was a botched job which adds to my body pain.  After 6 years of other strange symptoms, I was found to have an adenoma on my pituitary gland (another body part which can be affected by HH), cancer tumour removed (we are prone to cancer as it thrives on iron), constantly getting Helicobacter pylori (which thrives on iron), heart arrythmias whenever my ferritin iron hits 56, and numerous others - memory!  So far, liver good and pancreas good.

So ask for your pituitary gland hormones to be checked too, as you do not know what is lurking there.  You may have to be referred to an endocrinologist to get more than you thyroid or glucose levels checked.  I don't know what the go is there as my gp did not check my pit gland hormones.

Despite being "deironed" many years ago now - ferretin iron brought down to 13, optimal level that sits best with me now 34, I still suffer fatigue and body pain.  I have a very short day.  Walking is so arduous.  My haemotologist believes that once deiron we should have no more problems - a myth!  If we have have been left so long absorbing iron into our organs, the damage is done deep down in our cellular structure.

Now that I have had my dummy spit ...

Michael, you have some symptoms that I have not come across in my support group, ie. nose bleeds, bad headaches, swelling ankles.  However, my husband who was consequently found to be homozygous H63D (I am homozygous C282Y, our son C282Y/H63D), did suffer nose bleeds, bad headaches which were never connected to HH.  That does not mean anything - we can all have different symptoms.  He was eventually diagnosed with Hodgkin Lymphoma - any link?  Not known.  He no longer loads iron, supposedly due to H63D being a very mild form of HH.  Mine is aggressive and last Transferrin Saturation % was 107%!!!!.

The depression is very debilitating too for some people.  I know of a family man who ended it all even though they had been diagnosed.  Knowing of the drs in his small town, I believe his HH was not being managed properly at all.

Took me a while but I discovered that eating sugars and starches did not agree with me at all.  Whenever I have them (and hard to avoid at times), I have a massive truck hit me slump as all blood seems to go to my stomach to help digest, I end up bloated and useless.  I recently found in my searching, that we cannot digest sugar a starches very well and we can have the symptoms of diabetes without actually having diabetes.  But there are other carbs we can eat, like all the green veges, cauli, etc.  Root vegetables are high in starch.

Stephanie, I don't know what your dr is going on about regarding what type of HH gene you have - must be some myth he believes in.  It sounds like you have only one pos gene, which means you do not have hereditary haemochromatosis.  One gene does not absorb iron.  If you have a high ferritin level, it is being caused by something else and should be checked out.  Do not be settled on a diagnosis of HH.  If it is not caused by fatty liver (which can be made healthy by eliminating bad fats, sugars and starches), then it is something else and it is important that this be delved into further.

I notice that in England, a lot of people are being diagnosed with ferroportin disease, something which I don't know enough about to discuss.  CFS like IBS is a symptom of something else, not a diagnosis.

Among other things I have been searching for answers regarding fatigue.  It is accepted that it is one of the symptoms (and you know, some people may not suffer that either), but there is no research on it to prove it, how or why.  However, I have been noticing that the hypothalamus has been added to the list of organs that are affected by HH.  Now if you google this, you will find that fatigue, sleep and circadium rhythms are controlled by the hypothalamus.  Also interesting for me, body temperature - as I often wake up 'iced' - in the tropics (without airconditioning).  Sometimes happens in the daytime too, as well overheating when others are not so hot.  So my thermoregulation is up the creek.  What can we do about it??

It is the hypothalamus which tells our pit gland to give us hormone problems, e.g. libido.  The hypothalamus does not have a blood brain barrier because it has to allow peptide hormones to pass through.  It also samples the composition of our blood (full of iron!).  Hepcidin, which does not switch on to switch off our iron absorbtion (when we have HH), is also a peptide hormone which resides in the liver - I wonder if there is any connection.

So many questions and no answers.  Most research is done on liver, pancreas and arthritis.  Funding for research it hard to obtain because our condition does not require expensive medications for a manufacturer to be brought into the picture as a sponsor.

Sorry got to go - an appointment very shortly - I am going to be late.

I realize that some of you might not feel the same since a lot of you are about 30 years older than I am so your symptoms were and are a lot more serious than mine, but sometimes I just have to remind myself that I'm lucky because it was caught and because for me it's pretty much reversable and because this happened to me and because I was diagnosed with HH, it means that I can help spread knowledge about it and I can help make sure that the people that I care about, and others, stay healthy, because now everyone that I know knows that they always need to have their ferritin levels checked when they get a physical done.