And the Damage Done: Hemochromatosis recap

by Stephen Cobb on July 20, 2009

ironThe following is a recap of things I have learned from my partner’s experience with hemochromatosis, a.k.a iron overload. I wrote this up for a support forum which is private, but I thought it would be helpful to make it available to anyone looking for information on this insidious condition. BTW, the circle+arrow symbol on the left is the alchemical symbol for iron, and yes, it is the same symbol that is used for the planet Mars and for the male of the species (I’m not going to touch that one, I have a hard enough time avoiding “ironic” puns when writing about this stuff).

[Disclaimer: I am not a doctor. Seek medical advice before acting on, or drawing conclusions from, anything I say here. By all means Google this stuff, but do so sensibly (check the bona fides of the folks writing what you read, distrust any site that is selling a cure, and look for the HONcode which is a good sign).]

When blogs or online forums mention hemochromatosis, also known as iron overload, they often leave you with more questions than answers. This is not surprising because hemochromatosis is widely misunderstood (and widely under-diagnosed e.g. if you know someone who has been diagnosed with chronic fatigue or fibromyalgia you really should check out hemochromatosis–if untreated it can kill).

You often hear “hemochromatosis can be treated” as though that was the end of the story. Not so… It is true that blood-letting or phlebotomy can reduce the amount of excess iron in the body (which gives the condition its name). However, most hemochromatosis is hereditary and cannot be cured. A person who has hereditary hemochromatosis today has had it since birth. The presence of excess iron in the body over the years may have done irreversible damage before the condition is diagnosed or treated. And getting treatment is seldom as easy as it should.

I know this, because my partner has hemochromatosis which is being treated with phlebotomy, but she nearly died from, and has been disabled by, the effects that the iron overload had on her all those years that it went undiagnosed.

So how does hemochromatosis disable a person if not treated? Let me count the ways. It leads to iron build-up in the joints, the heart, the liver, the gall bladder, and glands like the adrenals, thyroid, and pituitary. (More in a moment on what those things means to one’s health).

Untreated hemochromatosis leads to cirrhosis of the liver even in people who don’t drink, and hastens cirrhosis in those who do drink). It can eventually lead to liver cancer and contributes to heart disease. Have you got any family members who have liver problems but swear they don’t drink? They may be telling the truth. Pay particular attention if you have Irish ancestry–hemochromatosis is more prevalent in Celtic genes (see “Celtic Curse“).

Remember I said hemochromatosis was hereditary and often incorrectly diagnosed? My partner had surgery on both shoulders then had her gall bladder removed way before any doctors connected the dots. Looking back, her mother died relatively young, of a massive stroke. Her mother’s sister died very young from liver cancer. Her father had a triple bypass at 50, then disabling and mis-diagnosed liver disease at 60. Serious heart problems contributed to his death at 70 and that of his son at 40 (ages approximated in the interests of privacy).

An uncle still living has been disabled (and hammered financially) by severe heart problems. Hemochromatosis was at work in all those people but never diagnosed.

So what happens when the adrenals, thyroid, and pituitary fail or malfunction due to hemochromatosis? The list of consequences is long, but worth noting, so here goes:

Adrenal insufficiency or failure: Muscle weakness and fatigue; Weight loss and decreased appetite; Darkening of your skin (hyperpigmentation); Low blood pressure, even fainting and loss of consciousness; Salt craving; Low blood sugar (hypoglycemia); Muscle or joint pains; Irritability; Depression; Pain in your lower back, abdomen or legs; Severe vomiting and diarrhea, leading to dehydration. (Note: there are variations on adrenal issues, c.f. chronic adrenal insufficiency, hypocortisolism, hypocorticism, Addison’s disease.)

Adult Growth Hormone Deficiency: Weakened heart muscle contraction and heart rate; Increased arterial plaque and blood pressure; Elevated lipids or fats in the blood (cholesterol, LDL, triglycerides); Decreased exercise capacity due to decreased cardiac output and decreased metabolic rate; Abnormal body composition (increased abdominal obesity–waist to hip ratio); Decreased bone density due to decreased synthesis of bone; Increase in fractures and osteoporosis; Decreased muscle strength and muscle size; Decreased lean body mass; Increased fat mass; Low blood sugar (dizziness or fainting weakness or tiredness, headaches); Poor concentration or memory; Decreased sexual desire; Sleep problems; Shyness and withdrawal from others; Nervousness or anxiety and decreased social contact; Sadness or depression.

Hypothyroidism: Fatigue; Weakness; Weight gain or increased difficulty losing weight; Coarse, dry hair; Dry, rough pale skin; Hair loss; Cold intolerance (you can’t tolerate cold temperatures like those around you); Muscle cramps and frequent muscle aches; Constipation; Depression; Irritability; Memory loss; Abnormal menstrual cycles; Decreased libido.

Now, I can honestly say that in the past 5 years my partner has experienced all of the above except for the darkening for the skin. And in fact, I left one out. At the end of the list of symptoms of adult growth hormone deficiency cited by the Human Growth Foundation is this one: Feelings of hopelessness. When I read that I thought to myself: “Surely it would be a miracle if you experienced all the other symptoms and didn’t have feelings of hopelessness.”

I know my partner has feelings of hopelessness, even though she is an amazingly strong person. She is taking supplements to cope with the 3 deficiencies she suffers (thyroid pills, cortisol pills, and daily growth hormone injections). Although the side effects of these can be very unpleasant, and it’s very tricky to get the mix right, she is making enough progress to fend off the worst of the depression (she is also taking pills for that of course).

All of which could have been prevented! Let me repeat: It was all preventable. A simple and relatively affordable genetic test is conclusive for hereditary hemochromatosis. Monitoring iron levels in the blood can indicate when phlebotomy is required. Unfortunately, due to a bizarre set of circumstances the iron tests that are vital in dealing with hemochromatosis are not routinely performed in America and, iron-ically, phlebotomies for hemochromatosis are a lot harder to get than you might think.

Would you believe that blood iron saturation tests were the subject of massive fraud cases settled in 1996, causing the tests to be dropped from “standard” panels. That single twist of fate kissed goodbye one of the best screening tools for hemochromatosis in the very same year that doctors discovered most hemochromatosis was genetic. Which was also the year that many clinics started to refuse blood donations from people who had lived in Europe (due to mad cow disease).

Guess who had lived in Europe? My partner and I. Guess who were big blood donors until 1996? My partner and I. And 1996 is when her health started to decline. Very slowly at first, but then accelerated by menopause (monthly blood loss due to periods tends to fend off the effects of hemochromatosis in women so they are often diagnosed later than men, but with more damage done).

And guess why many U.S. clinics won’t take hemochromatosis blood? Because they have no code for it in the system. (That’s what I heard and I’d love to be proven wrong, but it took our local health system four months to give my wife her first phlebotomy after her hemochromatosis was confirmed).

So there you have it, more than you ever wanted to know about hemochromatosis, from how you spell it to what it may do to you if not properly diagnosed and treated.

Of course, I should remind you I AM NOT A DOCTOR, so please seek medical opinion on this stuff if you suspect it is present in your life or that of your loved ones. But DO NOT ASSUME that your doctor, however kind and/or dedicated he or she may be, knows as much about hemochromatosis as you do, now that you have read this.

References:
http://www.endocrineweb.com/hypo1.html
http://www.mayoclinic.com/health/addisons-disease/ds00361
http://www.hgfound.org/res_aghd.signs&symptoms.html
http://www.irondisorders.org/Disorders/Hemochromatosis.asp
http://live.psu.edu/index.php?sec=vs&story=10913&pf=1

{ 53 comments… read them below or add one }

Suzanne Shuemaker August 26, 2009 at 6:39 am

I have HH and have had it all my life. I started presenting with symptoms at 33 after being on multivitamins with iron. I was never even tested to see if I was anemic. This disorder is easily identifiable through the use of relatively inexpensive tests. If the doctors would have used those tests, they would have discovered that I never needed iron. Doctors and insurance companies have not ever been in the business of preventive medicine. Healthy patients don’t produce much income. The money that could have been saved by the insurance companies by simply drawing a few tubes of blood and running 3 to 4 inexpensive blood tests is in excess of $200,000. I am finding out now how extensive the damage is so that cost is fairly conservative. How can we find advocacy in a system that discounts this disease? Sickle-cell, Tay-Sachs and Type I diabetes are routinely tested for. Yet this one eludes the medical field because the bulk of the damage is culmulative. Dare I say it is mostly found in the Caucasian population? No one tests for it until the patient has symptoms who knows how pervasive it is throughout America?

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Mike Chappell September 21, 2009 at 12:22 pm

Hi Stephen Sorry to hear your wife has had such a hard time with this shockingly unrecognised, by General Practice (GP) Doctors, ‘common’ genetic illness. I recently found out that I have Genetic Haemochromatosis (note English spelling!) last year at the age of 48, after joint problems (some times the first indicator of GH), fatigue and liver issues. I was lucky that it only took me 2 years to get diagnosed, and that when I pushed for a private consultation it only took 2 GPs for me to get referred to a Rheumatologist! Although the NHS is great, I have a paid up membership of Benenden, a society that pays consultancy fees to speed up referal processes that can be slow – especially if GPs don’t want to refer – a problem when the illness is not even recognised by them! Even with my membership (no initial cost to NHS through Benenden referal),- the first GP said that “no I had Osteo-arthritis as per my private MRI Radiologist reports, so I won’t refer”, although I could feel joint pain in all my major joints getting worse which underlined a systemic problem as far as I was concerned. The Rheumatologist I eventually saw privately, thankfully put me down for a Ferritin test amongst others, which the NHS consultant Rheumatologist I saw later, worryingly told me they did not routinely screen for! This showed my levels to be alarmingly around 2200 (normal max 300). After 20 litres of blood lost over the last year my Ferritin is down to around 20, although my joints are I feel getting worse, venesection usually does not undo joint damage, although stressed organs, like my liver, have hopefully recovered to some degree.

The problem is there is no one consultant that I have seen that has said what I should be checked out for, although Haematologists are monitoring my levels – it has been up to me to push for further consultations with Rheumatologists, heart specialists and probably next endocrinologists as my fatigue also still exists. My Hepatologist has pushed for a Liver biopsie, after normal Fibro and Ultrasound scans, she says joint problems might be nothing to do with haemochromatosis, venesection might just be a placebo effect and that she wouldn’t have bothered having my testosterone level tested (my GP did after I asked), but is quite happy for me to munch away on paracetamol after diclofenac for my joints nearly did for me – she sees the problem as being purely one of the Liver – funnily though my brother 2 years older than myself, also with haemo has had his Right Hip recently replaced (which I’m also currently putting off – he’s a firefighter!) and an operation on knee cartilidge, he was not aware of his status until my diagnosis – his Ferritin was only 600 and he had no raised liver function!

I for one feel that the governments and health services of both the US and UK have badly let down those with a Celtic genetic lineage – I was not aware of a Celtic connection in my family, although the genetic illness has been around long enough to also permiate the general population. It is well known in the scientific community that Iron is toxic in doses that are surprisingly small i.e 200mg of an Fe2+ compound can provoke a toxic response – see the wonderful – ‘Natures Building Blocks’ by John Emsley. It obviously makes sense that those loading Iron are being slowly systemically poisoned.It would seem that the US Insurance system that is happy to spend loads on treating symptoms of those who are covered, as per Suzannes comments above, may be just as bad as the UK system that does the opposite, but ends up supporting later an aging and damaged population which could have easily been prevented.

Best Regards

Mike Chappell
Bristol England

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n8whit March 26, 2011 at 12:35 pm

Mike. The reason your joints do not “feel” any better is because the bone marrow turning iron into blood (lost through phlebotomy) happens around the ends of the bones (my understanding of research). So it is in the joins that you will feel the effects of your body FINALLY using the iron stores for some good.

I am a Soldier, not a physician. But I have read a lot on this disorder since my family has it in their genes.

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Janet February 7, 2010 at 3:01 am

I am 47 years old and had some ruitine blood tests done and the nursing station called me to say I need to have more tests done because my iron was so high. The ferritin levels was 650. After I had the other tests for Hemochromotosis it came back I had one defective gene. I went to a specialist he wants to do a liver biopsy. I asked him if the test could be a mistake as I do not have the bronze skin. He discovered a small goiter. He now sent me for more blood tests just to make sure there was no mistake. I will see him again on Thursday. One problem I had is I could not get out of bed at one stage and walk straight away, my feet were stiff and my heels extremely painfull and if I sat for a period of time would have to rub them and walk on my toes first before I could eventually walk on the full part of my feet. The problem comes and goes though. I sometimes get a swollen tongue and feel I can’t swallow and I get very short of breath. I also get a pain in my upper left side of my abdomen. If I don’t have Hemochromotosis, why are my ferritin levels so high. I also want to make a note that I do not drink alchohol. This is very scary and the future looks bleak if it is the diagnosis.

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Stephen Cobb July 24, 2010 at 5:55 pm

Janet — Sorry to take so long to respond. The blog has been experiencing technical difficulties. Also, I have been very busy setting up a new blog just for the stuff I am writing about Hereditary Hemochromatosis. It is called CelticCurse.org and I am building a collection of links there, pointing to information you might find useful.

I am so sorry to hear of all your troubles. In my reading it seems the bronze skin only appears in about 25% of people who have hemochromatosis. Joint pain is the most common symptom. Fortunately, some people report improvements in that area when they get their iron levels under control.

Sadly, you are not alone experiencing these problems. And tragically, so much of this could be prevented by greater awareness and understanding of hemochromatosis. Over time I hope to do my part to create that greater awareness and understanding of hemochromatosis that we need so badly.

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cobbie February 7, 2010 at 11:47 pm

Janet — So sorry to hear of your suffering. Hopefully you can find the right diagnosis and treatment. What I am about to say has to be prefaced with this: IANAD — I am not a doctor. However, in all my reading there is no indication that the bronze skin condition is “required” for hemochromatosis. It is just one of a range of of ways in which the condition manifests itself.

A liver biopsy is one of the main tests for hemochromatosis, but a DNA test is required to tell if you have hereditary hemochromatosis. This is an important test because it can indicate other family members who might be at risk.

While the excess iron can almost always be reduced by frequent blood donation or phlebotomy, the effect of the condition on your internal organs and joints can be harder to undo, so catching this early, particularly in young family members, is very important.

I would like to see regular screening for excess iron, particularly in ‘at risk’ groups like persons of Celtic ancestry. It could prevent so much suffering and the cost of screening would be way lower than dealing with undiagnosed hemochromatosis.

I wish you all the best, hang in there…Stephen

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Janet February 9, 2010 at 2:12 pm

Thanks so much for responding to my comment. Here is South Africa this is apparently not very common or diagnosed. My grandparents were born in England and Scotland and I never knew how important it is to know your family tree until now. I will certainly inform family members who may be at risk to prevent their suffering as soon as I know for sure. Thanks again and all the best..
Janet

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Michael Williams April 26, 2010 at 8:09 pm

I was diagnosed through a DNA test in 2005 while on Active Duty at the age of 41. I had been suffering chronic fatigue and pain for years and if it were not for a persistent intern I may be in very bad shape today. I went to see him and told him, this makes no sense. I work out all the time, don’t miss work, and I am a great worker, but I feel terrible every day. Two months later I get a call from him at home. He had searched through my years of bloodwork and noticed that my blood was really good, too good in fact. I was on the high side of normal fro hemaglobin, and he thought that pointed to hemachromatosis. So he requested more blood work and found my ferritin very high….hmmmm, so he goes to order a DNA test for me and his boss (an experienced Dr) told him he was out in left field and said no to the test, so he went to a hematologist…who also told him he was out in left field. So …. he knew he was right and ordered the test anyway. Bingo! He was right. Now how crazy is that?

So I have been having my blood-lettings for years now, but my body is pretty broke. I am 46 years old, have had knee surgery, foot surgery, double hernia surgery, left shoulder surgery, right shoulder requires surgery but I refuse to do it. Every surgery I have gains me more scar tissue and more pain. I have chronic pain all over my body and have constant head pressure that started about 10 months after my phlebotomies began. I think that is from the stress of being in pain all the time is causing, plus TMJ. I also have Asthma, double vision, cracked teeth, spondylosis, degenerative disc disease L4 and L5, Ulcerative Colitis, Diverticulitis, GERD.

I have been considering chelation. Has anyone done this? I have heard that phlebomies only reduce the iron in the blood, but does not reduce the IRON that has deposited itself in joints and muscles.

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Chey Cobb January 4, 2011 at 7:34 pm

Michael,
I am so sorry to hear of all your suffering. I am Stephen’s wife and also a HH sufferer. Your problems and symptoms sound very, very similar to mine. At present I cannot work and and wracked with chronic pain and am fatigued beyond belief.

I also had surgery on both shoulders (the second one was easier because I knew what to expect – I slept in a recliner for two weeks which was much better than a bed.) Anyway, I attributed the shoulder problems to the surfing I had done in my 20s. Then I thought – what? it took 30 years for the damage to show? Then I had gall bladder surgery. At present I should be having both knees done but I hear that is very, very painful.

Anyway – what I’m trying to say is that NO doctor will say that all of our joint problems, gastric problems, fatigue, etc., is attributable to HH but, if you listen to HH sufferers like us, it’s just TOO coincidental that we all have bad joints, etc.

As far as actually REMOVING the iron we have in our systems the only treatment would be chelation therapy. I know of no country that offers this as the normal treatment option except for the Netherlands. There is a drug called “Exjade” (I’m pretty sure that’s the name.) I have no idea how long we’d have to undergo this therapy, it’s side effects, or how effective it is. Unfortunately, I think all we can do is treat our symptoms as they appear. Sad, but true.

Good luck and I hope you find some relief and stress-free days.
Chey

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Michael Williams January 21, 2011 at 6:17 pm

Chey,

Thanks for the reply. I have had a Dr. that tells me all of my problems are very like from the HH. She also told me that the damage I have is irreversable and that even chelation won’t fix that. Phelebotomies are really are only answer for keeping it from getting worse, but even that wreaks havoc on the body after awhile. I do know there is a place in Virginia that does Chelation as my therapists husband had it done there. If you want to communicate directly my email is miked1@comcast.net

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Gregg Helleren November 22, 2010 at 7:00 am

Hi – and thanks for the information.
I was diagnosed with haemo (homozygous C282Y) in July 2010 as an outcome of many tests to determine the cause of elevated liver enzymes. According to the MRI (ferriscan) and blood work, my Ferritin level was at 4500 ug/L and yet I had not suffered any obvious symptoms! From what I read here and on other sites, people with a level of just 600 can suffer greatly. How come I am still able to stand, walk and carry on a normal life? I’m confused any my haemotologist is astounded.

After 4 months of venesection my level is down to 1000 ug/L and (cross fingers) should be in a normal range within a couple of months. Getting theraputic venesection in Australia is not too difficult – even if they can’t use the donated blood.

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Brett August 26, 2012 at 4:44 am

Gregg

Are you still out there ?

I am also in Australia ans beleive I have HH and am pushing my GP to refer for a FerriScan. I dont have anyone to talk to about blood test results to compare. Could you send me an email to computer@qldcom.com if you can help.

Thanks

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Stephen Cobb January 21, 2013 at 4:11 pm

Sorry, I have been distracted. I can suggest several places to look for more input and support: http://www.irondisorders.com/ and http://celticcurse.org/ and https://www.facebook.com/Hemochromatosis

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Stephen Cobb April 20, 2013 at 2:29 pm

Gregg — We suggest you contact Hemochromatosis Australia.

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Joe Pettis December 30, 2010 at 1:22 pm

What is the treatment to remove the iron, for hemachromatosis if you are on coumadin and the blood banks won’t take your blood. I was told it would be dangerous to me to have any blood removed because my blood was already so thin. Taking Warfarin, Plavix and Aspirin, daily. I have six heart stents. Will get the test for hemachromatosis on 1/3/2010. What test do I need to demand that my Dr. order?

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Michael Williams January 21, 2011 at 6:20 pm

Hey Joe, one thing that concerns me about your post is your use of Aspirin. HH is tough on the GI system, and if you have HH aspirin is very bad for your GI system. Something to consider should you be diagnosed.

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Chey Cobb January 5, 2011 at 9:47 am

Dear Joe,
The only treatment available (at this time) is good, old-fashioned blood letting (phlebotomies.) In a normal phlebotomy they take out more blood than usual. Your doctor orders the phlebotomy which is often done in a clinic/hospital/chemotherapy lab. You don’t go to normal blood donation sites for a phlebotomy (although they are not supposed to refuse you, many normal blood donation sites will turn you away.) If the blood donation site is familiar with HH they may have a special “waiver” for treating you. (Loooong story about bureaucratic insanity.) Many blood donation sites will draw your blood and then have to throw it away!

I’m sorry my reply is too late for your doctor’s appt, but most of the answers you need are at http://www.irondisorders.org. We’ve met the people there personally and they are all really caring and cool. Good luck with your doctor. (BTW – if you have HH, he should probably refer you to a hematologist.
Chey

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Don Cameron March 1, 2011 at 1:00 pm

I too have HH, diagnosed finally at 55. I had been complaining to my Doctor for years about pain in my knees and hands but nothing showed up on x-rays and my tests for RA always came back negative. It wasn’t until my liver numbers rose – and I saw a gastroenterologist – that a ferratin test was done. My ferratin level was 6855.
Luckily, it only took eight months of twice weekly phlebotomies to bring me down to below 50, but I have also been diagnosed with cirrhosis. (I must admit that I was a bit of a drinker, especially after my wife died from cancer, but those days are done.)
I have been on a maintenance schedule for another eight months but still am in a lot of pain from my hands, knees and hips. I don’t know if that will ever go away. A Rhumatologist that I saw just shrugged and said “You have Hemochromatosis, I can’t help you” and left the room. Nice.
Don

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Aimee May 3, 2011 at 8:26 pm

Hi Stephen and Chey…I would love to hear your thoughts on my symptoms that I list in my blog. I was the youngest diagnosed in my area over 12 years ago, and I am just now suffering from all of the joint pain. I thought I was going crazy as I am only 36, and no one could link it to my HH. No amount of research I did added up to my symptoms until I found Hashimoto’s disease. It took me 10 months to convince a doctor that my thyroid was having problems and that they needed to treat me. Thanks again for this blog.

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Karen May 8, 2011 at 10:43 am

Hi – My heart goes out to you. Your blog is a GodSend to me, because I have and am still suffering from everything in your blog.

The most upsetting response to this whole situation is having “medical professionals”, who are not familiar with HH, tell you that it’s all in your head.

I feel like I have been handed a death sentence with no appeals available and there is not a night that goes by that I don’t pray that God just let’s me go. But, since I am still here tells me that God is not done with me yet.

I refuse to go to a “medical professional” because of the minimization of the illness and them almost killing me through overmedications and unnecessary tests. So, as bad as this “condition” is, my heart lightens up a little when I read blogs like this, because I know I’m not alone.

Why does everyone refuse to help you? Why do “professionals” (i use this term loosely) minimize this tragic condition? Where do I go from here?

I’m just lost and need to vent, so thank you for posting your blog.

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Racheal September 22, 2011 at 6:01 pm

I just want to say thank you for your blog. My husband was diagnosed about 2 years ago and it has been a struggle to get any doctors to listen to what he is going through they all keep saying this is an old persons disease and minimizing all his symptoms as if they mean nothing I am so frustrated and do not know what to do anymore!!!

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Tori Tassone December 8, 2011 at 5:53 am

Hi, I was diagnosed with HH a year ago, after my sister was confirmed to have the condition. At 42 years of age, while my iron levels are all at the high end of normal, it appears that I do not have a loading problem as yet. I do ,however, suffer joint pains in my wrists, right knee, and left shoulder. I have tried to ignore these pains, but they don’t seem to be going away. It panics me a little as I have enjoyed a very active life, exercising reguarly and working as a nurse in a very physically demanding job, to support my family, and pay for my kids’ schooling. Do you know if joint pain can be a feature even without a loading problem? I’m terrified of what could happen to my body and my life. I need to keep working for at least the next ten years until my kids are finished school! HELP!

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Michele December 15, 2011 at 9:02 am

Hello,

I am a 41 year old just diagnosed last week with hemochromotosis. The only reason I know was just luck and a little career success. My job promotion allowed me access to executive health care and annual physicals that are quite thorough. I kept noticing that my iron count was high. And I mean I noticed, not my doctor… Within the last year, my parents were in Ireland and heard that a cousin had the disease so I put two and two together after my last physical and went to hematologist. I am saved (at least i hope no damage and will find out with mri soon) but only due to my own persistance, linking the dots and having friends in the medical field. If its so common, why is it missed and why not just test for it in high risk groups to avoid all the pain suffering and costs. I never heard of hemochromatosis until my dad mentioned it. It needs more press………thanks!

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Stacia December 19, 2011 at 9:52 pm

I was diagnosed last yr. My Rhuematologist tested me after seeing abnormal blood tests referring to iron while checking for arthritis. I guess my age (38) was young for arthritis and it just so happens that she had another identical patient.
I am a single mom, I work about 45 hours a week and come home and clean and do all that needs tending. But I am tired a lot. I can explain this by lack of sleep and busy but I am gaining weight and I eat so healthy and work out 3x a week. I have always had decreased libido, and memory is not so good.
I need to do something about the weight thought… Anyone heard of this?

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Mary April 3, 2012 at 5:04 pm

I have just been told that my sister has been diagnosed with Hemochromatosis and that all us sisters have to be tested. Coinsidentily i was told about 25 yrs ago that i may have this condition but did not follow it up. I have over all these years suffered extream pain in my feet and legs, so bad that i sometimes find it almost unbearable and brings me to tears. Last year i took a TIA and thought i was going to die but thankfully have recovered and am one various medications. Reading the symstoms of this conditions really frightens me as i can relate to a lot of them but am so afraid to be tested in case it turns out i have it. My biggest issue is that how could i have been diagnosed 25yrs ago and am only now that this has been put in front of me that i am having to consider being tested. Is this timescale common/possible…

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Stephen Cobb June 12, 2012 at 1:03 am

Mary — I strongly urge you to get your iron levels checked. That is one way to know if your body is retaining too much iron, which is toxic to your organs and joints. I am also a big believer in genetic testing for HH because you may be able to shed light on other health problems in your family. The sooner you know the sooner you can take action, like changing diet and lifestyle to reduce iron. Here is one place to start: http://www.irondisorders.org/diet

You can also connect with other people concerned about this condition over on Facebook: https://www.facebook.com/Hemochromatosis

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Julie January 21, 2013 at 3:48 pm

Just got labs done and my TIBC/UIBC were low (239/64) and my Iron Serum/Iron Saturation were high 175/73. I have been having chronic fatigue, stomach pains, joint pains, wieght loss, hair loss, and is getting to the point where I am having seizures. We thought for sure it was an overactive thyroid my that test came back normal. Have yet to be diagnosed with anything, but something is definitely going on and feel I am slowing withering away. Help!!! Any advice? Do you think i have cause for concern or is it all in my head?

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Stephen Cobb January 21, 2013 at 4:11 pm

Julie — Well it doesn’t seem like it’s all in your head. These are real symptoms: stomach pains, joint pains, wieght loss, hair loss, and so on. I cannot comment on things like test results, but I can suggest several places to look for more input and support: http://www.irondisorders.org and http://celticcurse.org/ and https://www.facebook.com/Hemochromatosis

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Julie January 21, 2013 at 4:38 pm

Thank you! Starting to go crazy here. My poor husband, lol. I also have a 6 year old with autism, so i need to be able to keep up with him and I am finding it harder and harder. i am a noon duty aid at his school (I watch the kids on the play ground 7 make sure they are following rules) this is becoming too much for me. I love being with my son and with the other kids I just don’t know how much longer i can keep going. Anyway, it feels so good to vent. Thank you for sharing your family story.

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Adrienne May 8, 2013 at 12:14 pm

My partner is also an HH sufferer. He was only diagnosed within the past two years and he is in his 30s. His heart is getting worse, and it is so hard. Glad to know there are people out there who understand.

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Stephen Cobb May 9, 2013 at 4:32 pm

Adrienne – It is hard, and we feel for you. We have learned that you have to become your own research team and care management system to fight this thing.

We wish you the best…Stephen

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Kathy Myrvold May 11, 2013 at 7:04 am

Thank you…thank you
My 16 year old daughter was diagnosed with Addison’s Disease….my Dad had hemochromatosis……because you shared your story, I can go back to the endocrinologist and insist he compare the two diseases and see if we can’t get her feeling better. I am getting tired of researching this disease and hate playing physician, but when I find a path, I get encouraged again.
Kathy

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Eddie May 12, 2013 at 3:42 pm

Hi. Just finished reading comments. I am going for my gene test today and while this might sound weird I am at the point that I want a positive result to the test and finally have a reason for how I have been feeling over the past 4 years. And it is mere coincidence that I am having this test as I saw a different doctor than I usually do and he 2 weeks prior he attended a workshop on this disorder and recognised some indicators in the symptoms I was presenting with and previous blood work I had done at the clinic specifically a pattern of high liver readings. The most recent in January was ferritin level of 1200. Fatigue, abdominal and back pain, hip pain and “tennis elbow” coming and going have tormented me for 4 years, gradually getting worst. I have been diagnosed with a balance condition of the middle ear but wonder now if HH is the underlying cause of those symptoms. I don’t get the balance problems but have episodes of motion sickness that can last for up to 7 days. The tinnitus is constant. Being Aboriginal (Australian) I don’t notice any bronzing and I think the thinning patch on the top of my head is natural. It is interesting to note though that my fathers grand father was a full blooded Irishman. I know there are others whose suffering far out weigh mine and can only hope they find some comfort and healing, but I know having this site to share stories provided me with a source of comfort. Anyway off to the pathologists so we’ll see.

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Mandy July 30, 2013 at 10:15 pm

Hi
I am 25 years and experiencing all kinds of issues. I am constantly exhausted. I can not go a full day without a nap (and a long one too, like 4 hours)! My whole body is constantly in pain especially my knees, hips, arms and feet. My stomach is constantly is some kind of pain, I have a throbbing on the upper left side frequently and my back hurts so bad I can barley move! I also have issues with gas and constipation!
I had my gulbladder removed 3 years ago and had plynoric stenosis as a baby. Could what I’m experiencing be an indication of this disease?

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Chey Cobb July 31, 2013 at 10:50 am

Mandy,
I am so sorry to hear that you are suffering so much and I wish there was a simple answer to your question. I’m not a doctor, have little medical training, and to give you a diagnosis based on what you’ve written would be irresponsible of me. I can tell you though that the symptoms you have can be due to a huge number of conditions and you should to see a doctor. A responsible doctor would physically examine you and do a number of blood tests so he/she can at least begin to narrow down the list of possible conditions.

Do you have access to medical care? Can you afford care? If you have problems getting medical care, let me know where you live and I can check to see if there are any agencies or charities or anyone who can help you out. The ObamaCare act is just starting to go into operation and many states have websites that give information on how and where you can get affordable care.

You need to take care of yourself and I know how incredibly hard that is when you’re feeling like crap and can hardly get out of bed. I am concerned for you, so please let us know what we can do to help.
Many hugs,
Chey

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Pat O'Connor September 21, 2013 at 4:44 pm

Hello, I’m Pat have genetic testing coming up next week for HH?
Had this tested before via blood tests for ferritin and iron saturation but had heavy periods loosing my iron. As expected it came back negative. Mom and dad are from Ireland. Think I was misdiagnosed with MS. Extremely tired all the time with arn knee and back pain and bone scan showed arthritis in both arms and knees. My father has had an arthritic back for as long as I can remember and was never tested either was my mom. As well, with my 16 year old son when he had his gallbladder removed the doctor said his liver was cirrhotic. But they did the standard test for hemochromatosis and it came back negative. Could the blood test be wrong? What do you think?

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Cat September 24, 2013 at 7:45 am

Hello,
I am 27 and suffer from chronic fatigue, irritability, constipation, and my tounge feelings like it is burnt and swollen. My sister was told it was geographic tounge disorder but it always stuck with me that my dentist told me it was the “fairest” case he had ever seen if that’s what it was.
Because of this blog I am going to get my DNA checked. My family on that side has had all of these issues and then some but I think many as they get older are being misdiagnosed. Some of the things they are getting told are hereditary lifelong things that only show up in their 60’s like Crohns which I have been tested for. Never have I seen something that connected the dots like this for me and my families ailments. If I have it I can get my children tested so hopefully they never get damage.
Thank you for giving me something to bring to the doctor as I always write it off as minor day to day discomfort or something I am doing wrong (like not getting “good” sleep).

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Matt October 7, 2013 at 3:11 am

I have just received my second blood test (full iron studies) and it is suspected I have heamochromotosis. For the past two weeks I have tried to explain how I feel to various doctors. I feel like I am going to faint. I feel like I’m walking around in a dream. I get random little aches and pains all over my body, internally mainly. I feel like I have an infection. but the tests have all come back negative for infection. My heels hurt when I walk on them for the first time each morning. My bones in my legs and feet crack quite a lot. I am active and do a lot of home renovations. I feel great when I do sweaty exhaustive work. But afterwards I need to sleep anywhere from 10 to 12 hours. Everything in my initial blood test was perfect, except the ferretin count. My previous blood test was 6 months ago and it was perfect. Looks like it was caught early. I even went to the emergency ward because I was so faint I was worried I wouldn’t wake up if I fell asleep. They kept me there for four hours and had no idea what wad wrong. I have developed anxiety over flying and letting other people drive me around in a car. I have no want to hang out with friends and have withdrawn from every social occasion I have been able to get out of. Hh is real and it can kill. The symptoms have been passed off as tho I have a mental condition and if it wasn’t for one doctor I would probably be talkingto a ppsychiatrist instead of getting an ultrasound to see if any damage has been done. If you don’t feel ‘normal’ get a blood test every 6 months or so. It just might save your life.

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Harriet November 20, 2013 at 6:34 pm

Hi,

I was a vegetarian for 15 yrs when I started feeling really exhausted all the time (I slept for about 3days at different points) some of my family are anemic so I decided I needed a big red steak and began eating meat again. I had just met my current bf and was coming off antidepressants so put the exhaustion down to major life changes. A month ago I realised I was getting progressively worse and more sickly, my bf was beginning to think I was lazy I think but continually supportive. I went to se a doc who initially wanted to claim I had depression but I insisted on blood tests. Luckily she tested for my iron levels suspecting anemia and immediately realised when the tests came back that I had haemachromotisis. I live in Australia and after reading these posts am very glad I do because my levels are at 400 which seem low compared to others so I must have caught it fairly early.
After reading these posts I am more scared than before, I waiting to get the genetic tests back but have already had a venesection. Have I hot all this waiting for me? I want to have kids soon and I’m hoping this doesn’t affect my life too much. I also love a glass of wine in the evening, am I going to have to give these things up? I will go back to bring a vegetarian and plan to look at diet as a way to help.
The other question I have is: do people with this disorder have thicker blood? The venesection was awful and took half an hour to get the blood out, it this normal? A guy I know says it takes him about 2mins to donate a unit of blood… He is massively fit tho. Would asprin help before a venesection? Any tips would be gratefully received.
Thanks,
Harriet

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IAN C January 10, 2014 at 6:42 pm

Hi
I am 41yrs old Scottish male,diagnosed with HH 18mths ago. So far i have had 13 pints of blood removed and to be honest,i didnt feel any better.
I went back to my doctors 2 months ago and told her i wanted my testosterone levels checked as the symptoms included fatigue,depression,weakness,muscle wasting,
So she ordered more blood tests and yes my testo levels where 4 and i was told that 10 is the bottom side of normal. So i was prescribed testogel,and after 2 months of daily rubbing this alcohol gel over my shoulders and belly i have noticed some improvements.But im still getting symptoms similar to fibromialgia, and daily headaches so i am going to see my doctor again next week and see if i should get testo injections or find out if the iron overload has damaged other hormones.
I hope this helps someone who after being de-ironed feels the same.
I will post again with my results and to everyone with this celtic curse good luck and take care out there.My younger brother Gary 30yrs old and cousin Colin 32yrs old have been confirmed HH due to my diagnosis. So spread the word to relatives and you might just prevent some family members from premature death or suffering lots of pain.

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Cheryl Spear May 29, 2014 at 9:08 pm

Hi I am 58 and this past year I got diagnosed with hemochromatosis. I had a hysterectomy 23 years ago. My iron was at 508 when my phlebotomies started, I have joint pain and back pain with weak arm muscles at times and pain and or discomfort in my sides. I get sick often. I’ve had shingles twice and have diverticulosis. I’m seeing a haematologist June 4. Life has been tuff this past year. Will I be able to feel better in the future with more phlebotomies? Thank you for this site.

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Stephen Cobb January 29, 2015 at 10:03 pm

Sorry we did not see this sooner. Hope things have improved for you. You might want to ask your question on the Facebook Hemochromatosis page. My wife, who has the HH diagnosis, did not feel much better after phlebotomies, but has had a lot of success with medical marijuana, which is legal here in California. Mainly with the CBD-rich versions which seem to work well on joint and back issues. She has also had some success aplying CBD oil to shingles.

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Colleen Hirsch July 6, 2014 at 5:45 am

Hello – I’m married 3 years to a guy who is 51 and diagnosed with Arthritis in his back 10 years ago. Super fit but horrible pain and just got buried in opiates and antidepressants til we changed healthcare providers through an unexplained ileus that almost killed him last year. Then 3 months ago we got a DNA confirmation for HHC. His iron level about 1990. He gets a blood test every Monday now ( they take 3 tubes) and remove 2 pints of blood every Wednesday. His back does not hurt like his neck and shoulders do now – some mornings he can barely turn his head. I just checked him out of the hospital yesterday. July 4th eve he and I walking our dogs along the river and he had a major seizure. Hit his head and bruised the crap out of his ribs on the rocks. CT and MRI are clear. An EEG to follow. Having a helluva time getting a hemotologist assigned to us to help manage what now appears to be a problem with keeping him out of trouble staying active inbetween phlebotomies. Iron now down to 1200s but I am increasingly convinced he has late stage HHC – which includes metabolic acidosis. An EEG will confirm. Seizures are a symptom of iron poisoning. Anyone else at a stage of having seizures or comas?

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Stephen Cobb January 29, 2015 at 9:51 pm

Sorry we did not see this sooner. Hope things have improved for your partner. You might want to ask your question on the Facebook Hemochromatosis page.

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Janie January 19, 2015 at 1:54 pm

My serum iron is 175 and ferritin is 66. My transferrin saturation is 49% and UIBC is 142 . I rarely eat red meat and don’t take any supplemental iron. I have hashimotos and take Synthroid, also under the care of an Endocronologist so thyroid labs normal. I am growing increasingly tired and go thru periods of extreme fatigue and at times feel like I’m gonna die. My question is if high iron (like my scores above)causes fatigue even if I do not have hemochromatosis ? I will be getting the genetic test soon to find out if I have hemochromatosis.

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Stephen Cobb January 29, 2015 at 9:38 pm

To be honest, I’m not qualified to answer your question. You may be able to get more detailed information here: http://www.hemochromatosis.org/

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Jeff April 9, 2015 at 12:11 pm

How is your partner doing now???

All those additional drugs you said she was on, I’m sure caused her more harm than good

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Stephen Cobb August 8, 2015 at 11:16 am

Doing much better these days, thanks. Using medical marijuana, mainly CBD oil. No supplements.

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Sandy logan June 24, 2015 at 7:54 am

I was diagnosed with this debilitating condition several years ago. I had been to numerous doctors before finding one that listened to me. I am a nurse an knew something was very wrong with me. I just had to find the right doctor to listen. I started having phlebotomies but still didn’t improve. I had a friend that was also diagnosed an had found a chiropractor who does natural remedies an supplements. He ran a full battery of blood test an tweaked each thing I was either low or high on an started me on supplements an a organic diet and I have improved. I credit the doctor that diagnosed me an the chiropractor for saving my life an making the quality of life better. My friend was first on a liver transplant list he has been moved down on the list an doing much better. I really think if I would not have found this chiropractor I would have died. everything is better but I do tire easily. If I try to do workouts to build muscle an strength it doesn’t work it’s very exhausting an causes my muscles to be sore an weaker. Would like to be able to build my muscle back somehow. But seems I cant. Your article was very informative an helpful.

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Stephen Cobb August 8, 2015 at 11:19 am

Thanks for sharing Sandy. Conventional medicine is failing hemochromatosis sufferers in a big way. My wife has had great results from medical marijuana, mainly CBD oil. It’s not for everyone, but there’s no doubt it has helped her.

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arnold ronning June 25, 2015 at 8:20 pm

Dear Stephen, Thanks for the article. I am a 46 year-old white male who was diagnosed with hereditary hemochromatosis in 2000, at the age of 31. I first started noticing symptoms in 1998, primarily increasing fatigue and loss of appetite. By 2000, my own father, who was a retired family doctor, repeatedly asked me if I was using a tanning lotion to darken my skin, which I vehemently denied. He urged me to get a physical, which is how I was diagnosed. I myself had just completed a residency in pediatrics. I had also just signed on to my first job, and assured them that with phlebotomy I would be good as new (so I was told). So I started out at half-time. As I gradually moved on to full-time, every other night on call, I again grew increasingly fatigued, worse than before. Three years later when I gave my 6 months notice, I was diagnosed with adrenal fatigue – verified by a poor response on an ACTH stimulation test – and put on steroids for several weeks. I felt great during that time, but after weaning off, developed such headaches and fatigue that I was unable to work at all. Nine months later, I moved with my wife to Hungary (her homeland) to teach english as a second language, part-time. It was a good fit. Since then it has been a long road, and I can attest to the poor stamina, early exercise fatigue. loss of muscle mass, disturbed sleep, feeling of hopelessness, and simply “not feeling well.” I do not have arthritis, for which I am grateful, but I experience frequent arthralgias, worse during barometric changes. I was previously lean and athletic, and when the loss of appetite hit me, it was a big blow. I dropped to just over 100 pounds, and try as I might, my digestive system had weakened to the point that I finally gave up trying to gain weight. I thank you for your article, but exactly as you said, because hemochromatosis is “treatable”, it is often presented as if phlebotomy will make your life all rosy again. All I know is that in 1996 I competed in a mini triathalon with a good placing, and by spring of 1999 I had virtually stopped running, bicycling, and swimming. Even walking was tiring. Life has been a lot of compromises since then, and I have my wife to thank for putting up with me, as it is easy to get depressed. My best to your wife, tell her to hang in there, and I will try to do the same. Arnold Ronning, MD

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Stephen Cobb August 8, 2015 at 11:23 am

Arnold – thank you so much for sharing your experience. This really is a nasty and grossly neglected condition. My wife has had some success using medical marijuana, mainly CBD oil, but she has ongoing problems with fatigue and mental fuzziness. She has not be able to take a job for going on 10 years now. As you say, adjustments and compromises. But the love of a strong partner can go a long way.

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Kevin September 15, 2015 at 1:30 am

Im in Australia and to get blood taken out was a nightmare. My Ferritin was 380. Over here,that considered only “slightly” high. But Ive had CFS for 32 years and have many classic hemochromatosis. I had the blood test for 4 of the genes,but in the USA they test for 6. Now Drs in the USA are talking about DIOS,that mimmicks hemochromatosis. Ive had 3 lots of blood taken out. Aiming for another 3-4 to get my ferritin under 100. But every time i get blood out,my poor heart relaxes noticably.

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