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"Iron fists", fatigue, skin discolouration but blood test "normal"

Posted , 7 users are following.

Ferritin_Jim
Ferritin_Jim

Just when I thought I understood the condition I was surprised when someone I know with classic symptoms of Haemochromatosis was told by their doctor their blood test was normal, in fact bordering on anaemic.  Could an ignorant GP misinterpret the results?  What else could this be?

2 likes, 12 replies

12 Replies

  • GillianA
    GillianA Ferritin_Jim

    Posted

    Dear Ferritin Jim,

    You don't say what blood tests were done.  If hemoglobin and serum iron are low-normal and transferrin saturation is low or normal, but ferritin is high (indicating tissue iron overload), one possibility is ferroportin loss-of-function disease, the next most common form of hereditary haemochromatosis after HFE-related haemochromatosis.  Other possible causes of high ferritin with lowish hemoglobin are inflammatory or other conditions causing anaemia of chronic disease along with fatigue and joint symptoms and skin discolouration; for example, rheumatoid arthritis.

    Figure 4 in this 2010 paper by Dr. Pietrangelo gives a good diagnostic algorithm for haemochromatosis that may be of interest - http://www.gastrojournal.org/article/S0016-5085%2810%2900872-3/fulltext .

    I hope some of this will be helpful -

    All the best,

    Gillian

    • Ferritin_Jim
      Ferritin_Jim GillianA

      Posted

      Thankyou Gillian, that's very interesting.  Unfortunately I don't know what tests were done, they trust their doctor and won't inquire further.  I was hoping getting my iron right would head off arthritis but it looks like that could be in the family as well
  • Elisabeth35372
    Elisabeth35372 Ferritin_Jim

    Posted

    From what I understand about this condition is that you can be anemic and also have haemochromatosis.  Haemochromatosis is a measurement of stored ferratin in the blood.  Anemia is a measurement of circulating iron in the blood.  Do you know what kind of test the doctor was doing?  It is indeed possible to have low circulating iron and have high stored ferratin.
    • Ferritin_Jim
      Ferritin_Jim Elisabeth35372

      Posted

      thanks Elisabeth, unfortunately I don't know what tests were done, they trust their doctor and won't enquire further
  • megan36105
    megan36105 Ferritin_Jim

    Posted

    I agree with Elizabeth. Doctors often mistake low iron in the blood stream for anemia because they don't bother to do any further testing. I still don't understand how so many doctors are, in fact, ignorant when it comes to haemochromatosis considering how wide-spread it is.

    So make sure that both their iron and ferritin levels were tested.

    At the same time, you can't rule out that perhaps they have an issue with their liver, and not HH.

    • Ferritin_Jim
      Ferritin_Jim megan36105

      Posted

      thanks Megan.  The lack of awareness even among doctors surprises me as well.  Shouldn't it be screened for?  Seems to me it would save money for the NHS by preventing a lot of chronic conditions
    • megan36105
      megan36105 Ferritin_Jim

      Posted

      Oh, I agree. A little bit of money spent would make things much easier and safer for everyone in the long haul.

      I remember when I first went to my doctor about it I asked if they regularly tested for iron levels and I was shocked to hear that the answer was pretty much "no, unless we're given a reason to" and that was for regular physicals (so a full checkup which included a pap test and everything).

    • Elisabeth35372
      Elisabeth35372 megan36105

      Posted

      In my studies of this, I came across information that said that doctors used to check for this routinely (in the U.S., at least).  I'm not sure how many years ago that was, but it was quite awhile ago.  When the cost of medical care skyrocketed, this routine test was dropped.  Maybe other tests were routine back then, too, and were dropped as well, who knows???  What an unbelievable shame.  Unfortunately, many people do not know they have this until some damage is done.
  • sheryl37154
    sheryl37154 Ferritin_Jim

    Posted

    That is why it is important to ask for copies of all tests so that you see for yourself what is happening, and go back to it when you know more about what is appropriate.

    Actually I thought anemia is low red blood cells as indicated by haemoglobin.  Iron Studies blood test is the necessary test.

    Also, some people with HH can have celiac disease as well which makes them anemic until they stop eating gluten, then they start loading iron.

    • megan36105
      megan36105 sheryl37154

      Posted

      I know that anemia is normally shown by having a low red blood cell count, but I've been told that it's the abnormally low iron in the blood stream that causes the small amount. And where I am the doctor might only do a regular iron test, which of course I always tell everyone I know to have a CBC and ferritin test done.
    • Ferritin_Jim
      Ferritin_Jim sheryl37154

      Posted

      thanks Sheryl, that's very interesting about Celiac disease and HH.  Could possibly affect another person I know
  • cstar172125
    cstar172125 Ferritin_Jim

    Posted

    There are a lot of stupid doctors out there. I am 26 years down this road and I can't believe that more people don't know or test for HH. I sign's above are all of mine and espicailly the Iron fist , I have the hands which make typing hard. I can tell you your friend has it. Change doctors!!!!
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