Is it worth testing further for haemochromatosis in this unclear case?

I'm sorry that I don't know of any other London-area doctors, and I'm also sorry that no one has responded to this post for over a year. I hope you'll notice this one.

I don't know everything about transferrin saturation or ferritin levels however, what I can tell you is that my specialist told me, and keep in mind this is an actual haemochromatosis specialist, not just a doctor who does blood tests, an actual specialist who also happens to suffer from it - she told me that the main thing they look at is ferritin levels to diagnose because that was the most dangerous. If you have too much iron in your body it will eventually start to store itself in and around your organs leading to things like organ failure, cirrhosis of the liver and potential liver cancer in the future (if left untreated). For me, that was the only thing that they looked at and that was all that they were concerned about.

So based on that, I would say that your doctor was reasonable to deny it. You have to remember that even people who donate blood are only allowed to do it every 6 weeks as it takes up to those 6 weeks for your body to replenish the blood that you've now lost, so asking for phlebotomies when you don't require them could be potentially harmful for you.

That being said, there's no harm in asking for another blood test.

Have you done any more testing since January of 2013?

Thanks for this response and for your interest, Megan.

Yes, I have had more testing done. I had an MRI scan of my brain taken to see whether any iron had accumulated there. This showed that none had, and as iron is thought to accumulate in all tissues if it accumulates at all, this suggests that I probably have no iron accumulation in any of the tissues in my body. So this test has made me a lot less worried about iron accumulation and I'm no longer looking for therapeutic phlebotomies. I have nevertheless been giving blood as an ordinary blood donor with the NHS Blood Service.

Research has suggested that having a H63D mutation and an ApoE 4 genotype, as I do, is a significant risk for earlier-onset Alzheimer's, so I'm still a bit nervous about that, but I don't think there's much I can do about it other than following recommendations for reducing Alzheimer's risk (healthy diet, exercise, mental challenges etc), most of which I was already doing. But I no longer think that iron overload is the most likely explanation for my current symptoms (osteoporosis, eczema etc) and I'm looking into histamine intolerance as another possibility.

David, best thing you can do for yourself is donating blood as you say you are doing. They will soon let you know if your Haemoglobin is too low for donating that day. Keep going as long as they allow you to.

Ask for pituitary gland hormone testing - ALL of them.

And try eating/drinking. cooking with pure coconut oil - a dr's husband's alzheimer disease was improved by consuming coconut oil. Topically it is supposed to be anti fungus, anti bacteria, anti worms or was it pruritic? and some other anti. Sorry for vagueness - iron on the brain. (I have aggressive C282Y.) Consumed, it is supposed to improve your good cholesterol, among many other things.

I would love to hear how you go.

Thanks Sheryl for your advice and interest. I hope your aggressive C282Y haemachromotosis improves.

Yes, I have been eating coconut oil since reading about the possible beneficial effects for Alzheimer's. I'll consider getting my pituitary gland hormones tested when I next get some blood tests done, but as I'm only heterozygous for H63D and the MRI scan showed no tissue iron accumulation, I think it unlikely that my iron levels will have caused any damage. And I'm becoming increasingly confident that histamine intolerance is to blame for my symptoms.

I think that there may be a connection between haemachromotosis and histamine intolerance. It's just a theory but I'd like to share it in case anyone else finds it interesting. The symptoms of haemachromotosis, apart from the very late stage ones such as tissue damage and bronze skin, and the symptoms of histamine intolerance, are remarkably similar; fatigue, anxiety, depression, eczema, stomach pains, digestive disorders, headaches, acid reflux and osteoporosis have, I think, been reported by sufferers of both. Iron and magnesium compete for absorption and people with haemachromotosis, even those who are heterozygous, are known to absorb more iron than normal. So maybe they absorb less magnesium. I seem to - my iron levels are high but my magnesium levels are at the bottom of the normal range despite my eating lots of magnesium in my healthy diet. Low magnesium levels are known to lead to histamine intolerance because magnesium is needed to produce DAO (diamine oxidase, which stops dietary histamine from getting into the blood stream and causing signalling havoc including bone resorption). So maybe a haemachromotosis genetic mutation, even when heterozygous, leads to histamine intolerance which then leads to the symptoms that are reported. The symptoms are attributed to haemachromotosis whereas in fact they are of histamine intolerance.

Although it's just a theory, if it were true there would be a couple of interesting inferences. Firstly, phlebotomies won't necessarily cure all the problems of haemachromotosis - greater magnesium intake and a low histamine diet would also be necessary. I have taken to a daily soak in a bath with Epsom salts as this leads to magnesium absorption through the skin, and I have further increased my intake of green leafy vegetables. Plus I've been eating a low histamine diet. It's been helping a lot but it's still early days. Secondly, as a fairly large proportion of the population are heterozygous for a haemachromotosis mutation, it could explain some of the currently large number of unexplained cases of osteoporosis, eczema and IBS that exist.

David, your ideas are food for thought. I am going to research it. I am also looking at the amino acids that we miss out on because we have haemochromatosis. C282Y substitutes our Cysteine/cystine with Tyrosene. If you look at why we need Cysteine which is also a precursor to Glutathione (so we are missing out of that too), the deficiency results sound like a lot of haemochromatosis complications.

H63D substitutes (H) Histidine by Aspartate (D). I would send you a url but this website takes forever to approve a response with another web address in it. I will do it as a response so that you get this response first.

Rereading your first message again, your symptoms remind me of those of my husband (homozygous H63D) for many years after being in remission for Hodgkins Lymphoma. His gp finally tested his B12 and folate level. Very low, and after 2 weekly injections, my husband came home humming and finally talked to the neighbour whom he had ignored all this time. Black depression, fatigue, weakness gone. A much happier man. Deficient B12 causes neurological problems too. I know when he needs another jab.

After HL, his ferritin iron level never elevated again - noone had any answers. But he recently had an endoscopy and found his stomach highly inflamed with helicobactor pylori. He could have been losing blood that way. HP can be tested with a simple breath test. They were looking for something else in my husband's case. HP thrives on iron, and I have been treated for it twice.

So there are 2 more things to check out if you have not already done so. B12 (injections are best as some people do not absorb the tabled form esp. those with blood Type A), and Helicobactor Pylori.

Let me know what you think of the amino acid deficiency situation, as I can see you love to research the unusual.

The HFE Gene Mutation URL I promised:

http://www.cdc.gov/ncbddd/hemochromatosis/training/epidemiology/hfe_mutations_popup.htm

David, I don't believe it! My book on nutritional healing says about Histidine:

"

L-Histidine is significant in growth and repair of tissues, ulcers, hyperacidity, digestion, and gastric juices. It is needed for the treatment of allergies, rheumatoid arthritis, anemia, and in the production of red and white blood cells. Histimine is formed from histidine, and released by the cells usually as an immune response. Both histamine and L-histidine can chelate trace elements like copper from the body."

That sounds like your symptoms - that is what you are missing out on - well half of it anyway.

Substituted by

"L-Aspartic Acid

Because L-aspartic acid increases stamina, it is good for fatigue. Chronic fatigue may result from low levels of aspartic acid due to lowered cellular energy. This amino acid also protects the liver by aiding in the removal of excess ammonia from the body. L-aspartic acid combines to form molecules that absorb toxins and remove them from the bloodstream. It aids cell function and RNA/DNA formation."

Now it does not seem you are being benefited by having extra Aspartic Acid, nor do I feel any benefits from extra Tyrosene. So there is the flaw, or it just does not work that way.

Thanks for your advice Sheryl. I will definitely have to get a H Pylori test. I've had an ulcer before although I didn't notice it - it was found during a Celiac Disease test (which itself was negative). From what you wrote, it looks as though I may have an increased chance of getting an H Pylori infection because of the H63D gene causing increased iron absorption.

I've had my vitamin B12 measured and fortunately it's very good - at the upper end of the normal range. I eat plenty of meat, eggs and fish.

I think we may be talking a bit at cross purposes on some of the things though. From what I understand, the substitution of histidine by aspartate relates to the creation by our bodies of a protein that is used as part of the body's mechanism to absorb iron. By making this protein differently (with aspartate instead of histidine), our bodies absorb more iron. But that is different to being short of histidine in the sense of not having enough of the amino acid in our bodies or in our diets. Histidine is an amino acid that is contained in the proteins that we eat. Our bodies do need histidine but can usually get what they need from our food. My understanding is that the fact that we make the iron absorption-related protein differently has nothing to do with whether or not our bodies may be short of histidine overall. I eat plenty of protein and so I don't think I am likely to be deficient in histidine. But if I've misunderstood you then I apologise.

Sheryl, does your husband have low-normal serum magnesium levels, as I do? I googled Hodgkins Lymphoma and magnesium and found a study ("Serum Magnesium Concentration in Patients with Leukemia and Lymphoma" ) that found:

"the existence of normal to decreased level of S[Mg] in patients with leukemia and lymphoma suggesting an influence of many variable factors. Although the decreased S[Mg] was statistically significant, it was still within lower normal range."

This ties up with my theory. The increase in your husband's iron absorption maybe caused a decrease in his magnesium absorption, because iron and magnesium compete for absorption, and this might have played a role in him developing lymphoma.

I'm sorry to hear of your husband's previous condition and I hope that it remains in remission.

Hi David, it is great to having a sounding board to discuss left-field thoughts.

I thought our theories had collided because you were talking of histimine problems and L-Histidine, which is broken in your case, is responsible for forming histimine, etc. In my case, L-Cysteine protein is broken and the deficiency of cysteine causes a lot of problems from which I am suffering.

Yes, we eat a healthy diet of protein, and vegetables, excluding sugars and starches, in each meal but I am thinking that we are just not absorbing those elements related to L-Histidine in my husband's case and L-Cysteine in my case because our faulty genes make it ineffective.

I searched through a wad of blood tests and not once was magnesium levels ever tested. His phosphate tended to be just on the low side. I am pretty sure my magnesium level has never been tested either, as we have both have had the same tests.

Now we have been taking, amongst others, magnesium supplements in the form of aspartate, oxide and chelate for years. But knowing that my husband was just not absorbing B12, I guess there are others that aren't always absorbed by some people. We eat the foods that contain magnesium and B12 as well. My B12 was good (I am blood Type 0).

I know a Professor of Genomics at our local university, and who also has HH (homo C282Y). He also has Gilbert's disease which benefits him with anti-oxidants. He has a theory about trace elements. Just what I do not know - it is difficult to get some time with him. I have had my suspicions about copper.

L-Cysteine/Cysteine is also meant to chelate copper from the body, and L-Glutathione is a said to be a detoxifyer of metals and drugs (among other things). Having said that I did ask for a test for copper many years ago and was told I was ok, but that was before I realised it was a good idea to ask for copies of all tests.

Insufficient magnesium can cause high blood pressure, but both our blood pressure is in the low-good range.

I have not come across anything about iron absorption and magnesium YET.

I was intrigued to hear you had an MRI of the brain looking for iron deposits. I am not too sure that they could be found, unless you were dead from it. I have had frequent MRIs of the head because Haemo damaged my pituitary gland and I ended up with a micro-adenoma on the pit gland throwing out excessive prolactin. Haemo also affects (by which I assume Iron deposits) the hypothalamus too, thus affecting our hormones.

At the time the micro-adenoma was discovered, the endocrinologist listened to my heart and found it racing like crazy - I did not feel it. Off to the cardiologist whose tests included a 24 hr holter - found to have 21,000 extra beats in 24 hrs. Then the worst bit - he put me on beta blockers. I immediately went into a fog, brain not talking to my bladder, I could not put more than two words together as the words in my brain did not make it to my tongue, driving to back to dr, I could not remember where I was going and let the car drive itself, and horrifyingly discovered I could not read traffic lights. I gave up driving.

Now, beta blockers and the like, dilate blood vessels, also to the brain, and I suspect let the iron particles into my brain. It was more than two years before I could articulate a sentence. Even trying to speak in simple terms did not work as I could not get them as far as my tongue. A long time ago, I did spend a little time with a woman who was in a nursing home because of dementia caused by over taking medicating drugs, and I sounded exactly like her ... two words then nothing. Now I wonder what her real health history was.

Constant repeat MRIs to keep an eye on my pit gland (plus medication to reduce the prolactin) and no visual sign of iron in my brain. The damage would be microscopic scar tissue caused by the iron particles cutting through on the way in, and again on the way out with venesection, or blocking some synaptic signals (don't have the right words) forcing the brain to grow another pathway.

This is what it does to the heart. I found a study on this that was published in "Circulation", Journal of American Heart Association. Of course, it is only found by autopsy.

The wisest words I received about iron overload in the heart, from a specialist cardiologist, is keep up the venesections. They can't cut it out, drain it out any other way. I guess this applies to the brain too. Keeping up your blood donations is the best thing you can do for yourself.

With Haemo, the iron tends to find a sensitive organ or a path of least resistence - not necessarily spread evenly all over us. So far my liver has not been affected and this is the first organ that it generally goes to for most people. Pancreas as well. But it sure is making up for it everywhere else.

I will send to you an url to an Iron Disorders Institute form, page 2/2 reports on normal levels to achieve, and it also lists all the organs that are affected. I will send it via private message as it takes a while for this web site to approve other website links. Over to you again.

Thanks for such an interesting post, Sheryl.

I'm sorry to hear of the problems you had from taking prescribed medicines. I don't know whether it's the case where you are but here in England doctors are under a lot of pressure to get patients out of their offices within a fixed, short time, and so often just prescribe whatever they can think of to get rid of them without really thinking through the side effects or getting to the bottom of the underlying cause.

If you have been taking magnesium supplements then perhaps your magnesium levels are ok. I don't know. I'd be interested to hear if you ever did get them measured. Thanks for looking for them in your existing results. I have low-normal magnesium but my blood pressure is at a very healthy level too. Perhaps my theory is wrong and the magnesium thing is a red herring.

Others have questioned whether the MRI scan really would pick up an iron accumulation. The consultant was quite confident that it would unless the levels were very low indeed. I didn't realise that iron could accumulate in one tissue more than another. I don't really know what I can do about it other than giving blood and hoping for the best. Fortunately, as I am only heterozygous for H63D my serum ferritin level isn't that high - 117 ug/L - so maybe the risk for me is lower. My copper level is normal. My heart rate is quite healthy too at around 60 beats per minute but I do sometimes get palpitations which one doctor suggested was caused by my heart beating too much and then skipping a beat to compensate.

Thanks for the Iron Disorders Institute form, it is very interesting. I read through the problems by body area and fortunately, apart from the non-specific symptoms and the heart palpitations I don't think I have any of the conditions. So I still think that histamine intolerance is the most likely cause for me at the moment, and my efforts to address this are going well.

Best wishes.

Hi David, I did find a magnesium result among my chemistry tests back in Nov 2000! I was 0.81 in a range of 0.7-1.0. I will look again in my husband's results but they seem to have stopped testing magnesium after that time. Magnesium is such an important element in our health though, and I wish it did more for me what it is claimed to do. But then, I would probably be a lot worse off without it.

Interestingly, on this website (patient etc), under the disorder of Haemochromatosis, there is a reference to haemo affecting zinc causing a problem with copper. I will need more time to check that out.

In Australia, because I pay health insurance, I generally see drs/specialists privately. Still costs heaps despite the health premium, and I still feel I am being rushed through. The cardiologist I saw at the time was actually shrugging his shoulders at my questions as to why I was having arrythmia problems. Haemochromatosis does not feature highly in the consciousness of drs here either. Apart from my own, I hear dreadful stories of lack of diagnosis and ignorant treatment of HH.

(Actually private health insurance only covers costs of in hospital treatment and sometimes there is a gap I have to pay if surgeons charge too much.)

Now I don't think either of us has mentioned testosterone. HH does reduce testosterone which also causes fatigue, muscle weakness, depression. My husband started off with the usual lack of libido and impotence putting it down to his age which I was in disagreement with. When he started growing man boobs it was off to the dr with him and yes, his testo was dreadfully low.

It was put down to the damage caused by chemo and radiumtherapy as this had damaged his pit gland and caused thyroid damage. He is on thyroxine. On to testogel, and currently on to 3 monthly injections. But in terms of mood/depression alleviation, B12 fixed that. But you are fine with B12.

HH does cause depression, mood disorders, personality changes and other neurological problems, as you would have seen under the term "Encephalopathy".

I think if I had eczema, it would drive me crazy. No doubt you have tried coconut oil on the eczema?

Off the top of my head I don't understand histamine intolerance. Does it cause food intolerances? I come back to HPylori again, which could also be reducing your ferritin iron levels from bleeding in the stomach, and of course, colonoscopies are very important too to check that end. HH does reduce our immune system.

You have a strangely high TS% for a heterozygote. I wonder if you have another HFE fault for which you were not tested. What about your family? Any children that should have been tested too. Any other close rellies that should be tested if not already?

Hi Sheryl,

I've had my testosterone level tested and fortunately it is fine.

I haven't tried coconut oil for eczema, I'll do so. I'll get the H Pylori test too.

Histamine intolerance is a bit like a food intolerance except that it is not any specific food but the amount of histamine in the food. When food is very fresh, it has more-or-less no histamine at all, so we probably evolved not eating histamine in most foods. But as food ages, bacteria start living off it and produce histamine as a by-product. It's different to the bacteria that makes food go off and we can't taste or smell the histamine. Food preservation techniques stop the bacteria that makes food go off but don't generally stop the bacteria that make histamine. Humans have a mechanism to stop the histamine in foods getting into the blood stream and causing signalling havoc, but in some people it doesn't work properly. This is histamine intolerance.

Maybe I do have another HFE fault. Only C282Y and H63D can be tested easily in England. Even those are hard to get done. None of the rest of my family have been tested and aren't very keen to do so given the cost and difficultly, and I have no children.

David, The reason why my husband was sent off for an endoscopy was when I asked his dr to look for another reason why he had this persistent cough, night and day for years now. The red herring was sinus. I said forget about sinus, it is something else. So it was hugely strange to find his stomach was inflamed, a sample taken to find H pylori. He had never complained about stomach pain.

He is also being seen by a head and neck surgeon soon for the same symptom. We are waiting for that outcome before starting medication. I just googled "H pylori and cough" to see if it was a consideration and it was. When I had H pylori twice, I just went straight to piercing burning ulcer pains with 6 duodenal ulcers.

I was intrigued to find that other people were complaining of having problems when eating foods with high histamines and chemical allergens, fatigue, depression, etc., and found they had HP. Now they just might have Haemo too, but it might also belong solely to the problems caused by HP. But it sounds promising for you too. There are often false negative test results with the breath test, so keep persisting.

Since Christmas when I ate too much, or so it seemed, getting a feeling of satiety too early with a hugely expanding and sore belly. Guess what, signs of HP! So it sounds like we both have it now - it is contagious. So there are different symptoms for HP too.

I have always taken a small spoon of Manuka Honey first thing in morning, but obviously it has not kept the HP away. Maybe after treatment, my fatigue symptoms could be reduced too! That would be wonderful.

I am attaching a url for a newsletter so you can see what we are doing in Australia about Haemochromatosis. We are on a campaign to create awareness of haemochromatosis among medical practitioners and patients.

http://haemochromatosis.org.au/wordpress/wp-content/uploads/2014/02/IA-News85Feb2014-web.pdf

It seems there a few more HFE faults, and S65C is one that is generally included in tests now (in Australia).

Hi Sheryl,

I had the breath test for H Pylori today, following your good suggestion. On taking the urea tablet I got quite a reaction of gas in my stomach. It became fairly uncomfortable and I felt as though I needed to burp extensively to relieve the pressure. I didn't though, manners being what they are, and it subsided after about half an hour. Is it normal to feel such distension on taking the test? I get the same feeling occasionally after eating food, sometimes very painfully, but I've never been able to pin down which foods cause the problem. I get the results of the test in a few days. But the reaction I got during the test has made me think that a positive result is quite likely.

I also found from googling that H Pylori can cause a low platelet count, something which I have consistently had for years but for which no doctor I've seen has suggested a cause.

I'll let you know the result when it comes through.

David