Anybody C282Y heterozygote & confirmed with Haemochromatosis?

Allergies, blood and immune system
1

I believe I have haemochromatosis, but my genetic test reflected that I was only C282Y heterozygote and my doctor has advised that I can only be a carrier. Is this true? Does anyone know of anyone else who is C282Y heterozygote and suffering with the disease?

I have been suffering with severe joint pains (particularly in my fingers) and general fatigue.

My initial blood tests ruled out rheumatoid arthritis and showed the following levels:

Ferritin: 2672 ng/ml

Transferrin: 139 mg/dL

Transferrin saturation: 96%

I was prescribed 4 weekly phlebotomy sessions after which my results improved to:

Ferritin: 2177 ng/ml

Transferrin: 161 mg/dL

Transferrin saturation: 82%

However I also then showed signs of anemia with my hemoglobin levels reducing from 14.8 to 12.9 g/dL.

The doctor has now decided it can't be Haemochromatosis because my levels haven't reduced sufficiently after 4 sessions and because of the anemia reading. 

I am Irish and know this is prevalent in the celtic race.

I am now to be tested for Still's disease, even though the only sympton I have is joint pain. I could be proven completely wrong, but I feel this is  complete waste of time and is delaying my correct treatment.

My doctor has admitted he has little experience with haemochromatosis so if there is anyone else out there with similar readings and the same genetic result I would love to hear more about your diagnosis.

Thank you 

2

Hello John and welcome to the forum,

I don't know if you can be C282Y heterozygote and have haemochromatosis, but looking at your ferritin and transferrin saturation, it is looking likely.

I am H63d heterozygous which means that I should not load iron but further investigation showed that I have a mutation on the FPN gene which is the cause of my iron overload.  Unlike your transferrin saturation reading, mine was much lower which is an indication of having a mutation on the FPN gene.  From memory, the gene is called SLC4A01 and the form of haemochromatosis is called Ferroportin Disease (haemochromatosis type 4).  

The interesting point to note with Ferroportin disease is that it does not respond well to phlebotomy.  I was venesected every fortnight to begin with and my hb dropped from 12.7 to 10.8.  I had to go every three weeks for a while until my hb recovered and then I went back to fortnightly.  My hb did not go any lower than 11 after that, it seemed to appear that my body had got used to being bled.

It might be worth asking your doctor to test for Ferroportin disease.  I am in the UK and my blood was sent to Oxford University for genetic testing.  It took a while to come back as the University waits until there is a batch to be done and it is done in one go.

I hope you can get some further testing done, something is going on, especially with a ferritin as high as yours.

Please let us know how you get on.

Best wishes

Marie

3

Ditto Marie's response.  At the same time as asking for a Ferroportin genetic test, ask to be referred to a Haemotologist in the hope you get more specialised treatment as it is tricky to moniter.

It is very good that you know your tests results which probably means that you are probably asking for copies of your test results.

Good luck

4

Many thanks for getting back to me folks.

I visited the doctor I have been seeing on Monday and he is convinced that I do not have hemochromotosis, despite the numbers. He has now referred me to a blood specialist in the hospital as well as another rheumatologist and also a optomotrist..... it's getting more complicated by the day. 

The doctor says that there is obviously something amiss given the level of my Ferritine and saturation percentages, but he also feels that as my iron levels aren't ridiculously high then maybe it is caused by an infection and that further blood letting isn't the cure. I have a few weeks to wait for these appointments, so we will see how it goes.

When challenged the doctor who had suggested Still's Disease, kind of shrugged her shoulders and said "Well don't believe me if you don't want to" hardly inspiring, especially given as this was a private hospital. Given that I was displaying none of the symptoms of Still's (aside from joint pain), it was hardly surprising that we challenged her.

 

5

Hi John

It is good that your doctor has referred you to a blood specialist, at least you will be seeing someone who should know all about haemochromatosis and do the relevant and necessary tests.  Usually, the haematologist will send you for an ultrasound scan to see if there is any damage to the liver, i.e. fibrosis (hardening of the liver) or more serious chirrosis (not sure of spelling).  I have slight fibrosis on mine.  As my ferritin was so high, I was sent for a ferriscan (MRI with special software that measures iron in the organs) and this showed that I had loaded significantly in the liver.  My reading was 14 and the normal level is 2.  Fortunately, no real damage has occured.  I have also had a fibroscan, a less invasive procedure than a liver biopsy, this measures how hard the liver is by sending a signal through the skin and tissue to the liver.  Much like an ultrasound scan.  My reading was normal.

I don't call a ferritin level of 2177 not particularly high.  I think it is fairly high, considering that the normal level for a male is between 50 to 300.

You may have a hard struggle getting a diagnosis, mine took two years of which most of that time I had slipped through their net.  The actual time of testing took about six months to get diagnosed.  My level when first tested was just under 3000 and in the next two years when finally diagnosed it had risen to 5000.

I am not surprised by your doctor's reaction when you challenged her.  It took me ages to convince my doctor that something was not right.  He did loads of blood tests but did not do a ferritin test and sent me to a neurologist.  I was complaining of weak muscles and tingling.  The neurologist sent me for nerve conduction tests and these proved to be normal and then monitored me for several months.  He discharged me after he could not find anything wrong with me.  I went back to my doctor after a while, still feeling that something was not right and I asked for an MRI scan.  He could not request this but had to refer me to the neurologist again.  He was reluctant to do this but I insisted that I did not feel right and had a gut feeling something was wrong.  I did have the MRI scan and this came back showing that I had infiltration of iron in the bones.  This started my journey to being diagnosed with Ferroportin disease.

Good luck with all your appointments with the specialists and I hope you have an easier journey than I did.

I shall be interested to know how you get on.

Best wishes

Marie

6

It sounds like you have had an epic journey Marie.... levels fo 5000... it's a wonder you were standing.

Interestingly I also have tingling sensations, which I just put down to restless legs... my mother has something very similar, but there are nights when I lie awake with these sensations. There might well be a connection.

Thank you greatly for taking the time to reply to me.

7

Hi John,

I have recently been going through tests and was initially told that my blood test showed that I was C282Y heterozygote.  I was told by the doctor that I was a carrier and it was extremely unlikely that I would develop haemochromatosis and that the symptoms I was displaying were probably stress-related (i.e. he obviously thought I was a complete hypocondriac!).  A couple of weeks later, I had a call from the surgery asking me to go back and discuss my test results.  A different doctor told me that the results had been read wrongly by the previous doctor and I am in fact carrying one of each gene and now have a much greater risk of loading iron and suffering with HH symptoms.  

I am particularly interested by your comment that you are being sent to see an optomotrist?  I have eye problems and wondered if there may be a link.  Or am I just looking for links in every situation??!!  May I ask why you are being sent to see an optomotrist?

I am now waiting to see a haemotologist and have been waiting for some time!  I was told to chase up the appointment myself by the doctor's surgery when I called them.  The secretary to the haemotology department said I could be looking at December before I'm seen.  She said it was because my doctor arranged for the appointment rather that me doing one of those choose and book appointments - they sneak in "through the back door" so to speak - something to remember when booking appointments in the future!

Good luck and let us know how you get on.

H 

8

I'm a C282Y / H63D heterozygote and my ferritin levels have never been more than 387. Yet my liver and my myocardium - unfortunately, especially the heart - were full of iron. I was self-diagnosed genetically so you can imagine the reception I had with the doctors. It took many appointments with many dctors to finally get an order for a T2* MRI. That's really the gold standard to determine organ iron deposition. It's my view that many of us who are not C282Y homozygote are efficient iron storers and don't necessarily have extremely high amounts of ferritin in the plasma. This disease is cause by hemosideron (the ferritin-like form of iron organ storage) and radical iron ions in the organs - not by excess ferritin cages in the blood plasma. It's theorized that high plasma ferritin levels are good predictors of excess iron storage in organs and that may be true. But the inverse - low ferritin levels mean there's no organ storage - is just not true. C282Y homozygote folks are the cohort well studied. Carriers and other heterozygotes need the definitive organ test to make a determination, in my opinion.

9

Hi mac, that is very interesting information and not something that I have come across before.  I have had a bit of access to researchers, and attended the Australian conference on HH.  There was absolutely no mention of plasma.  Their frustration is that there is very little funding for research, particularly because there is no pharmaceutical company that has any relationship with HH (only all the complications).  So they are dependent on government funding.  Mostly they are trying to prove to the gov that HH is a very common and expensive problem, therefore screening should occur.

17 years after diagnosis (homozygote C282Y) and long 'de-ironed', ie. originally back to my teens and now levelling out to about 34 after each 3 monthly venesection, I still have the fatigue, aching bones, muscles, etc etc, but my haemotologist keeps telling me it is not HH causing it (nobody is coming up with anything else).  Now he is a very good haemotologist and a very good oncologist, but I don' believe he knows a lot about HH.  Even the researchers only specialise in a particular area, like liver or arthritis.

My brain was affected when I was given beta blockers for arrythmia (which occurs when my levels go up unknowingly).  I suddenly could no articulate more than a couple of words, total brain fog, unable to drive (i.e. could not remember when I was going, how to get there, how to read traffic lights, etc.)  Beta blockers dilate the blood vessels and allowed the blood brain barrier to be breached.  It already breaches the hypothalamus because it does not have a BBB.  That is why the pituitary gland is affected too.  I ended up having a pituitary gland tumour as well.

During the 9 year wait for diagnosis (some drs are so stupid), I also had constant left side chest pain, but cardiologists could not find anything.  They also did not know anything about HH.  This pain dissipated with venesections, and returned when my levels jumped up.  But there was always denial.  There is lots more, but it would become a book.

My son is compound like you (his father is homozygote H63D) and at age 22 had a ferritin level of 772.  Our plasma has never been tested.  While my C282Y acted aggressively, C282y/H63D and H63D/H63D are often deemed to be a mild form (as it was in my husband's case - although when diagnosed his ferritin level was 557).  My son is not coping very well but I can't, of course, ask his haemotologist (mine as well) what is going on.

3 years later my husband was found to have Hodgkins's Lymphoma, and after chemo and radiumtherapy, he no longer loads iron!!!!  There is no evidence of loss of blood anywhere, as it has been searched for.  Drs don't know why he should suddenly stop loading.

Medical professions will only refer to research outcomes, not case studies or autopsy evidence.  "It is not proven".  So there is no researched evidence that HH affects the brain.  There is research but not enough to make med profs accept it.  But no other answers either.  An Australian research team who, when funded, have researched the effects on the brain but cannot mimic it in mice, which is all they can use.

I suspect the damage is done to our organs because of the length of time this toxic iron is left undiagnosed/untreated in our organs, whether it is extremely high or not.

While I come across a lot of heterozygotes with high ferritin, it is deemed to be caused by other factors, particularly if they have bulging belly.  Eliminating those factors, usually decreases that ferritin.  There are health benefits from donating blood every 3 months whether one has HH or not anyway (for most people - not the aenemic ones).

On rereading your post, is plasma the right word to use?  To me plasma is a separate part of our blood.  When people donate plasma, they are not reducing their iron.  That part of their blood is transfused back into them.

 

10

Hi Sheryl - I meant just the conventional meaning of plasma - i.e. blood plasma - the extracellular blood product that doesn't include cells, and in our area of interest, I don't believe includes the ferritin cage protein complex, because they are not soluble.

When we get a blood test for ferritin levels we are getting the concentration of ferritin cages in the blood plasma - that's what the count is, 772 or whatever it is. This is to distinguish it from cytoplasmic ferritin, which is the ferritin cages within the cells of the body (not in blood plasma). There are far more ferritin cages in the cellular cytoplasm than there are in the blood.

In any event, the structure and function of the ferritin protein cage renders the Fe3+ iron ions within it practically inert - i.e. that iron is not reactive to any body tissue as long as it is within the ferritin cage. Ferritin enclosed iron cannot cause a disease state.

It's those of us with HH that have defective genetics that cause us to store iron in the form of hemosideron both in organ cells and in the interstitial space between those cells. It's apparently in the space between cells that causes the most organ damage because people without HH can have hemosiderosis which is hemosideron within the organ cells, but not in the interstitial space and they have little or no organ damage.

The HH treatment theory of venesection (what we Yanks call phlebotomy) is that as we mechanically remove iron by the removal of red blood cells, the resulting induced erythropoiesis (new red blood cell creation) uses stored iron - certainly in the form of plasma ferritin as it is the most readily available - but, and this is what really counts, by utilizing the interstitially stored hemosideron in the organs, which is what causes the damage and resulting dysfunction of the organs.

In my opinion, the success of phlebotomy treatment is a function of the dynamic of when (i.e. what life stage) we begin treating the disease. I believe the medical literature shows that the path to and from hemosideron storage is through ferritin. But the mechanism of going (back, in effect) from hemosideron to ferritin is not fully understood. Certainly, we can achieve lowered ferritin levels without substantially reducing organ iron stores. Hence the T2* MRI. I believe there are also pathophysiological iron stores that are none of the above that aren't affected by phlebotomy. So, any complete strategy for de-ironing must include some form of chelation, in my opinion.

I agree that very few medical practitioners understand HH. Certainly, the medical science of human iron physiology has far outpaced the practice of medicine in the field, but I think that's likely true for most areas of human health: practice is far behind the science.

11

Ok, you are using language not usually used by HH researchers, e.g. ferritin cages, ferritin protein cage, so you are throwing a spanner in the works, which is a good thing.  Isn't ferritin the transporter or trafficker?

I do agree that there is something more going on than what is generally published.  Despite my left side chest pain which occurred when my ferritin levels went up (the pain occurred before I knew what the levels were so they were not anxiety) and a feeling that my heart was swollen, inflamed, I too undertook a T2*MRI of my heart at my own expense and they say they found no iron deposits at all.  This was after I had been deironed for a while.

However, I did get the best advice ever, from this particular cardiologist before I had the T2*MRI, was that even if they saw it, they can't cut it out, can't drain it, etc, just to keep having those venesections.

There is another factor which I had come across via a study of autopsies of people with iron overload.  It was found that the heart (and probably other organs) showed scarring from the tearing into and (on venesection or chelation) tearing out of by the iron particles, which although minute, are still hard with sharp edges.

The tv show "House" actually featured it too.  In fact they featured HH at least twice when I was watching it, and from then on always included it in their list of possible diagnoses.  However, I have not yet seen the tv shows e.g. Dr Oz, and The Doctors, talk about it even when the subject is fatigue and joint pain.  Is it a big secret in the US?  Do people ever talk about it?

Like I said, I think the damage is done long ago before diagnosis and treatment, and an old locum actually said that to me in the early stages of my treatment.  Consequent haemotologists don't agree.  They insist that once deironed we don't have any more problems.  I have also found that in my experience, that people who have had glandular fever at some time of their life (usually teens), usually don't have a good time with HH.

I have had a peculiar breakthrough though this year.  I was fed up with having 2 hr phlebs, with 4 puncture wounds in order to get sufficient blood out of me.  My blood being so thick and black it would not flow.  Not all the time, but often enough.  I could not get any sense out of haemotologist nor gp (must have been the phlebotomists' fault), when I suggested trying aspirin.  Went ahead anyway, taking 100 mg aspirin a day.

In less than a week, I felt lighter, walked faster, I wasn't dragging that ship's anchor and chain around with me everywhere, the pain in my muscles and bones lifted.  Next venesection, I filled that bag easily with bright red blood.  Then I saw my Iron Studies which had been taken a week before the venesection.  They were all NORMAL - like I did not have HH at all!

And I keep tabs on them, I have a spreadsheet where I record them.  For the first time since being diagnosed (17 years), all my levels were within the low to normal range.  Haemotologist:  "It sometimes happens!"

No wonder the pain lifted - I was like a vehicle trying to run on black sludgy oil, now my blood is moving.  Although I was always told I had good circulation, and my oxy levels when tested were always 99%.

So, it is a mystery.  I have seen no documentation on this at all.  However, will wait and see what happens next Iron Studies.  Not having it till October now, instead of September as I am due to see Haemotologist in October.

As far as having chelation goes, I have not ever followed it up.  It appears to be problematic for some people, although that is the path that those with thallasema often have to take.

Will your haemotologist try you on chelation?  BTW, did your T2*MRI show evidence of iron loading in your heart?

 

12

Thank you for sharing your story, mac.  I find this forum so useful and it's very helpful reading about different experiences.  I'm convinced that I'm being affected by HH although my ferritin levels are fine.  I have the same mutation as you.  It's so difficult getting doctors to take things seriously and to not think you are a total neurotic hypocondriac.

I am thinking of asking for a T2*MRI - I'm pretty sure I'll have to pay.

My mum and sister have been given blood tests but because their ferritin levels were fine, the doctor is refusing to give them the DNA test.

13

Ferritin is a 20 something protein complex (there are multiple kinds of ferritin in vertebrates, including 2 types in humans, and more in the non-vertebrate species, but let's not quibble here) shaped like a sphere. It's referred to as a protein cage prominently in the literature of iron physiology and pathophysiology.

It's an iron transport mechanism in the blood plasma and it's an iron storage mechanism in the cytoplasm of cells.

Transferrin (another protein complex) is utilized to transfer iron to and from ferritin in the dozens of processes, involving dozens of proteins and enzymes and a number of genetic encodings, that occur in iron physiology in the human body.

I believe that HH is not well known among medical practitioners in the US. No doctor ever did an iron panel on me for 40 years of my clinical presentation. There are a number of good, educational web sites that are administered by knowledgeable professionals in a number of medical disciplines, but they really don't have any kind of good PR mechanism or spokespersons to get the word out.

I can't take aspirin because of HH induced hypothyroid. There are a number of good, natural products available that reduce fibrin and achieve blood thinning characteristics without interfering with coagulation. I hesitate to spell them out because I don't think the moderator will allow me to do it here.

I would never use pharmaceutical chelation. Because of my condition, it would be too difficult on my heart. I have, however, worked with a number of natural chelators, some supplemental like IP6, and lactoferrin. The most gentle are food based. Blueberries are among the most powerful natural chelators that exist (I'm a cohort of one, but I know if I eat 2 cups of blueberries in one sitting, I'll go into AFIB shortly. It moves the metal for sure.) My favorite currently is eggplant - must have the skin. I like the asian varieties. The oxlyates in the skin are great iron chelators and, for me at least, gentle.

Yes, as I believe I mentioned before, the T2* MRI revealed substantial iron stores in the myocardium. My hepatologist was quite surprised by this and has expressed that it is extremely rare to have greater heart loading than liver loading (as in my case). 

I pretty much "fell off the cliff" at the end of 2014, after arthralgia presentation for 40 years. I was never diagnosed during that time. My arthralgia was diagnosed as stone bruise (when I was a high school athlete), later, gout, pseudo-gout, and "non-bilateral arthralgia with rheumatoid features" eventually by a rheumetologist. No arhtralgia/gout treatments ever had any effect. In 2007 I discovered I was Vitamin D deficient. I took 100,000 IU a day (yes, that's not a misprint) for 7 years which relieved many of my symptoms. But, did not, of course, prevent iron loading from continuing.

At the end of 2014, I had a 'mild' heart attack with a resulting stent placement, two weeks later followed by a TIA event. On my own, I got genetic testing done and diagnosed myself, eventually getting some doctors - after arguing the point with 6 or 7 others - that agree that I was suffering from HH. Subsequently, I've had a numbef of AFIB events, especially as we've begun moving iron in the myocardium with phlebotomies.

I have a cardiologist team, an endocrinologist, a hepatologist team, and a hemotologist team. And my primary care physician is a very bright naturopath smile.

My health team has been split on proceeding with phlebotomies as they have appeared to induce or make me more susceptible to AFIB events - especially during erythropoeisis. I proactively moved my phlebotomy work to an oncology lab so that they occur in a clinical setting with emergency support nearby. That has seemed to mollify the health providers involved. Looks like 6 or so more phlebotomies to get to the next T2 * MRI for me.

 

14

It's a challenge when you know something is wrong and the medical professionals don't agree with you. I just kept going to new doctors and getting referrals when they didn't agree with me. 

At least 6 doctors told me, basically, "You don't have HH. Your ferritin levels are fine." I'd show them the literature from research that clearly shows that ferritin levels are not necessarily indicative of iron stores. And I'd show them my genetic results. They didn't buy it. I'd look them straight in the eye and tell them that I needed a referral because they were incorrect in their diagnosis.

Eventually, I got to specialists, who, thought doubtful, eventually wrote orders for the T2* MRI. None of them argue with those results. And I've made sure that all 9 doctors that I consulted with have those results.

But, still, even those who know the situation now, have a difficult time viewing my health condition through the eyes of HH. I just keep reminding them.

In the US, you can self subscribe to a DNA testing service. At least one is pretty inexpensive. I can't spell it out here because the moderator won't allow it, and I'm not sure if these saliva based tests are available outside the US (I would suppose they are available in some countries). Even within the US, there are some states that won't allow you to personally subscribe to a genetic test. You have to promise not to spit in their state. smile

 

15

Yes, you are right - it is transferrin that is the trafficker.  Can't rely on my memory these days.

Which also makes me ask - you have a problem with production of red blood cells?  I.e. causing AFIB.  Doesn't this take a couple of days at least, or more?

How is your folate, vit B12?  What about kidneys?  Thyroxin and testosterone in males comes into it too and I see you have hypothyroid.

I know this sounds simplistic but would a saline drip at same time of phleb help?

I have heard about eggplant skin - maybe it was an earlier post from you.  Also read something about cabbage but could not clarify if best eaten raw or cooked.  I always understood the polyphenols in blueberries reduced the uptake of iron but not actually chelated it, same with oxylates.

BTW, I also remember in one of the earlier episodes of NCIS, the victim had HH.

I think you can tell us of natural products except not, I suppose, if it is in a bottle and someone makes money out of it.

Last night, the word that come to mind, after I related what aspirin did for me, is that it possibly 'unclogged' old deposits of iron.  What do you think?

It really sucks when our health issues are the results of ignorance, denial and incompetence of medical professionals.  HH is not new.

 

16

I don't have an RBC production problem. I have an electrolyte exit problem. As the iron moves from the myocardium and as erythropoiesis occurs (this extra erythropoiesis induced by the phlebotomies) about 10 - 12 days from the previous phlebotomy, I experience massive potassium exit and if it plummets quickly enough or goes too low, I go into AFIB.

I'm supplementing up to 8 - 10 grams of potassium a day just to stay mostly in the 'normal' range. I also have a potassium monitor at home that I use to test my potassium levels at different times during the day. I'm getting better at managing it, but it's a very tricky balance between potassium, sodium, and other electrolytes.

My B12 and folic acid are over the top of the range and have been for many years. I've never had a kidney or liver test show any sign of dysfunction. 

It's not during the phlebotomy that's an issue. It's the phlebotomy 'cycle' that challenges me. They do blood tests prior to the phlebotomy and if I were low in potassium, for example, they'd put me on a potassium magnesium drip then. But we haven't needed to do that. By time I get to 2 weeks, I'm good again.

I don't think aspirin can chelate iron. Pharmacologically, aspirin only prolongs bleeding time and has no other kinds of anticoagulation effects and it does not affect platelets. It has no iron binding characteristics. All chelators have an iron or general metal binding affinity and are then excreted from the system.

I can't take it because I already have a low body temp. It reduces my body temp further.

17

I read that erythropoiesis was the RBC production process.  Your health has become very complicated.

I was not confusing the affects of aspirin with chelation.  Merely that it thinned my blood to possibly get it moving when I had a venesection.  Whatever it did, it has made a huge difference to the symptoms I have endured for years.  I didn't bleed after venesection, it sealed pretty quickly, and don't have any strange bruising that some people get from taking blood thinners.  It seems to be what my body needed.  Time will tell, as it is still only about 5 months.

My temp is mostly (uncomfortably) high, but occassionally (nothing to do with ambient temperature), I will become 'iced'.  Actually I might have to front up for metal chelation for excess copper.  Copper cannot be reduced by phlebotomy.  Maybe that will cool me down!!!!!!

Mac, you have had to do much more research and self education more than the average HH person, in order to get the treatment you need.  And the delayed treatment has made your treatment much more complicated, as your body has aged with these complications.

Maybe you can get one or more of your specialists to write up a case study for publication so that your experience is put on record for other drs to read.  

It would be good for you to let us know of the outcome of your treatment.

 

18

Yes, that's what erythropoiesis is. We all do it to the tune of about 2 billions RBCs a day. When we do a phlebotomy, our system determines that we need extra RBCs because of the resulting hypoxia (oxygen deprivation) that the phlebotomy creates and initiates what amounts to a massive new RBC creation that takes between 10 day to 2 weeks to complete. 

Yes, it makes sense that aspirin would assist with blood thinning. I worry a bit about the side effects - expecially microbleeds. I know that some folks have suggested aspirin to create microbleeds for HH sufferers, but uncontrolled bleeding is not a good idea in my opinion in any event.

Have you thought about trying willow bark extract? That's what aspirin was originally derived from. It takes a bit longer to spin up but its effects are more powerful long term and it doesn't cause bleeds because it's in its natural state with the other supporting chemicals that the salicin needs. Just a thought.

I have a personal theory - unsupported by any research that I can find - that folks with HH also tend to accumulate other metals. After this phlebotomy course I'm thinking about chelating with modified fruit pectin - there are several natural formulas available. 

I'm writing a book smile.

19

Hi Mac

Thank you for sharing your story - I have been going around in circles for the past two years (in fact I've just posted on here as a newbie before I spotted your post) but your story sounds a bit like mine.

I am also a compound heterozygote and was discharged by the gastroenterolgist because he said I am unlikely to load iron. He thinks my ferritin is due to something else and advised me to lose weight. I am a bit of a chubster (BMI 28) but I'm not convinced.

My worst symptoms are joint pains and lethargy. I also occasionally get palpitations. Over the last few weeks my joint aches got really bad (hips and back) but now are in my large thumb joints, wrists and fingers - affecting my ability to ride my motorbike. I had a ferritin check and I just knew before I rang for the results that they had gone up - and they had. From 509 earlier this year to 671 last week. A rheumatologist has ruled out rheumatoid arthritis so it seems like common sense to me that my ferritin must be related to HH and the increase correlates to the increase in joint pains - so what now? I feel like I am not getting anywhere.

I suppose the other answer could be that the raised ferritin is due to my raised BMI (? fatty liver) and it is the ferritin causing the pain. My plan is to lose weight and stop all alcohol intake and red meat and see if that helps.

Anyway, thanks again for your post - it is good to learn more about this condition, especially since my two sisters and my brother are also affected (brother C282Y/C282Y and in venesection programme).

20

I looked at fruit pectin (apple I think) a while back but was concerned I would gum myself up good and proper!