Hemochromatosis Symptoms: What NOT to expect

by Stephen Cobb on July 25, 2010

Describing the symptoms of hemochromatosis can be tricky. As we have noted elsewhere:  “Early signs and symptoms of hereditary hemochromatosis mimic those of many other common conditions, making it difficult to diagnose.” (Mayo Clinic)

Adding to the challenge is the fact that not everyone who has HHC exhibits every symptom of HHC. For example, the bronze skin discoloration that gave rise to one of the earliest terms used to describe this condition–bronze diabetes–may be present in as few as 25 percent of patients. But you should not be surprised to hear a doctor say, even now in 2010: “I doubt you have HHC; your skin looks fine to me.”

Likewise, many women are still hearing this: “I doubt you have HHC; it rarely affects women” or “It’s probably not HHC; that’s mainly a man’s disease.”

{ 7 comments… read them below or add one }

Andrea October 5, 2010 at 11:36 am

My brother (in London, UK) was told ‘you can’t possibly have HH, it’s too rare’, and laughed out of the surgery, despite the fact that he’d told the ‘doc’ his sister (me!) had it and both his nephews (my sons) are carriers. He was told he had a vit B12 deficiency and was given a course of vit B12 injections which, needless to say, helped not a jot. He has multiple symptoms and recently suffered a (fortunately minor) stroke.

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Maeve :) May 17, 2011 at 7:10 pm

Heyy :) I’m 18 years old and female .. I know you should never self diagnose online and should always get a second opinion from a doctor .. But I’m worried that I may have this hemochromatosis :/ I recently had a weird coloured bit of skin on both my thumbs, I appear to be loosing my sex drive (much to my boyfriend’s disappointment), I have PCOS so my periods are already messed up, after eating I start feeling really sick and it’s making me not want to eat and finally I constantly have a dull headache behind my forehead, making my eyes feel heavy and making me kinda dizzy .. So yeh .. If you guys have any advise or information it would be appreciated greatly :/ xxxxxxx

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Casey Allen June 25, 2012 at 6:59 pm

Hello Maeve,

Sorry to hear that you think you have hemochromatosis. But the chances are very slim that you do. The skin change does not come at an early stage of the disease/disorder. It is a result of many years of damage….as the transferrin saturation exceeds 100%, the iron seeps through the bloodstream and into the organs, including the skin, the largest organ in our body. Since you are a female and only 18 yrs. of age, you will not have had enough time accumulating iron for this stage to occur (unless you for some reason do not menstruate). The disorder mainly effects women older than 50 yrs. of age. This is NOT a diagnosis, and I am NOT a doctor, but I am a second generation sufferer of HHC. So don’t worry, until your tested and diagnosed. Then you can worry, trust me, there will be plenty of that if you are diagnosed with a terminal disease/disorder. Until then, don’t read into every little change your body exhibits, as you will only perpetuate your hypochondriac like fears.

Thanks and be well,

Casey Allen
Redding, CA

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Ali December 25, 2016 at 12:21 pm

I just stumbled upon this conversation today several years after this took place and I just felt I needed to comment.

To make the assumption that women at an older age will show more symptoms as haemachromatosis is inaccurate. While I agree with you about over reading into things and being afraid, to say that being 18 years old and not having enough time to accumulate etc. isn’t right. The earlier the diagnosis the better the prevention of complications that result from this disease going under diagnosed.

I was 17 when I was diagnosed. They’d didn’t think I had anything of the sort because of my age and gender. But every other test that came back was negative. My mother was with me the whole time and the doctor said that it was must be in my head.

Needless to say, my mother would not except that answer and kept pushing. When she made the comment about my skin colour that’s when he provided perhaps he should test for iron and serum ferritin. My serum ferritin was 600. It was low compared to most other people who are diagnosed. I was one of the lucky ones with an early diagnosis.

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Stephen Cobb March 11, 2017 at 6:06 pm

Sorry for the delayed response, and apologies if I seemed to imply hemochromatosis-induced iron overload is only problematic for women at menopause. I realize there are young women who get hit with it as well, and I know there is a ‘prejudice’ among doctors who seem to think it is only young men who are affected. My point about menopause is that any woman approaching that point would be well-advised to get the HFE test, in case the lack of monthly blood loss reveals an otherwise masked tendency to hemochromatosis-induced iron overload. SO GLAD you got early diagnosis. Go Mom!

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Glenn Brown December 29, 2013 at 4:43 am

Advice please, good people…(preferably UK NHS service consuming citizens)

53 year old male, mixed Irish/Scots descent. Recently had to insist that my GP facilitated blood tests after he spent 30 mins of 2 consultations (time is money in today’s NHS it seems) persauding me that all my symptoms (fatigue, joint and muscle pains, odd bronzing of neck and lower legs, arrhythmias) were undoubtedly due to onset of middle age, possibly diabetes. Results of tests seem to me to be fairly conclusive: ferritin at 1137. Yet GP refuses to diagnose HHC, though he has referred me to a consultant as a non-urgent case. I’ve been waiting for 2 months already and must wait another 6 weeks before I get to see the specialist concerned. Yes my American friends, the NHS is far from the holistic health Nirvana depicted in the last Olympic Games opening ceremony…..

All in all, had a pretty miserable Christmas and am massively frustrated (angry) that the GP has been so unwilling to accept any treatment responsibility until such time as the consultant formally diagnoses HHC. In many ways it appears that I am fortunate: I do not appear to have developed any significant liver damage (liver function tests results were ‘marginally dysfunctional, nothing to worry about really’) haven’t got diabetes (blood sugar within norms). An unusual condition (apparent from my limited research) given age and ferritin levels, but my fear is that since the debilitating symptoms (cramps, aches, arrhythmias, headaches, joint pain, fatigue, mood swings) have only recently kicked in with a vengence, the other more prenicious ‘big’ symptoms will quickly follow, possibly in the intervening period between weak-kneed GP referring and me actually getting treatment. Treatment which, it seems to me as a former soldier with some experience of handling a grey cannular, couldn’t be simpler. I’m almost tempted to start myself!

If any Brit has gone through similar experience and has wisdom to add, please do not hesitate to give me the benefit of it as I am bereft of options other to wait for the behemoth that is the NHS to get it’s finger out.

Pretty grumpy for an Irishman- it’s a symptom!

Yours Aye,

Glenn.

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Jane September 23, 2015 at 10:56 am

Casey,
I was diagnosed at 17 years old. Presented as extreme fatigue, hair loss, chest and abdominal pain, also no menstrual cycles . 24 now and living daily with it. So yes it can be detected before you are 50

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