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Haemochromatosis: 'Most common' genetic disorder test call

Discussion in 'Other health news and research' started by Andy, Jan 17, 2019.

  1. Andy

    Andy Committee Member

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    https://www.bbc.co.uk/news/uk-england-devon-46891782
     
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  2. Andy

    Andy Committee Member

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    This is the study that this article is based on.
    Open access at https://www.bmj.com/content/364/bmj.k5222
     
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  3. mariovitali

    mariovitali Senior Member (Voting Rights)

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    Last edited: Jan 17, 2019
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  4. DokaGirl

    DokaGirl Senior Member (Voting Rights)

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    Everyone should be tested for this. This condition seriously effected a friend who struggled for many years before a diagnosis. Sadly with the lengthy delay in testing damage was done.
     
  5. Ravn

    Ravn Senior Member (Voting Rights)

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    Especially since it's cheap and easy to do a basic screen.

    Most people here should have been tested for iron levels because uncontrolled haemochromatosis is one of the conditions that should be excluded before making an ME/CFS diagnosis.

    But if your doctor hasn't done at least a standard iron panel you may want to ask for one, just in case.

    All the women amongst my friends and family have had their iron levels checked at a relatively young age, either during pregnancy or because their doctors suspected anemia/iron deficiency. Two of us were picked up as having haemochromatosis that way.

    On the other hand, almost none of the men I know have had their iron checked, ever, presumably because of a preconception that men are less at risk of anemia since they don't menstruate and on average eat more red meat than women.

    If you have your genetic data you can check for yourself if you have the main genetic risk factors. No panic if you do, not everyone with them develops haemochromatosis, but you would want to get your iron levels monitored more frequently so you catch it early if iron overload does develop. Treatment is usually straightforward.

    C282Y (rs1800562) A is the risk allele.

    H63D (rs1799945) G is the risk allele.
     
  6. DokaGirl

    DokaGirl Senior Member (Voting Rights)

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    @Ravn, I noted on the other forum, that after treatment your blood is destroyed as hazardous waste; likely due to ME, correct? (Of course, your blood might have to be destroyed re this procedure anyways.)

    Ever ironic that although pwME are treated as mentally ill, we cannot donate blood or be organ donors. The schizophrenic crappola of governments.
     
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  7. Ravn

    Ravn Senior Member (Voting Rights)

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    In New Zealand – different countries have different rules – if you only have haemochromatosis but are otherwise healthy your blood can be used as a blood donation.

    At the time of my haemochromatosis diagnosis I was still (wrongly) thought to have MS, so my blood was originally rejected because of MS and they've just kept the hazardous waste warning sign on my file ever since.

    However, in New Zealand they do reject ME blood, too. So ME or MS, same difference: I'm officially a hazard :eek::D
     
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  8. Amw66

    Amw66 Senior Member (Voting Rights)

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    And you have to have both
     
  9. mariovitali

    mariovitali Senior Member (Voting Rights)

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    Slide 66 from my presentation at EUROMENE : It shows the percentage of heterozygous / homozygous SNPs on my cohort of 72 people (includes though ME/CFS patients, Post-finasteride patients, post-accutane patients and fibromyalgia patients) on the Hemochromatosis gene (HFE) listed by @Ravn :

    aaa.png

    You can see a number of SNPs being grayed out. I specifically mentioned that this work is available to any interested researcher.

    Also part ona previous slide i specifically mentioned that ME/CFS patients should be screened for Hemochromatosis.

    These SNPs reside in my computer for quite some time now. Oh well.
     
    Last edited: Jan 18, 2019
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  10. WillowJ

    WillowJ Senior Member (Voting Rights)

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    I had a high ferratin when I was younger. No one said anything.

    It wasn't high later. I guessed maybe they were taking enough bloods at the time that if it was hematochromatosis, that was enough treatment.

    Hasn't been checked in a long time.

    You'd think iron tests would be pretty standard for anyone with a chronic illness, as anemia of chronic illness is also a thing.

    I thought I'd previously read that they didn't use the bloods taken from hematochromatosis patients here in the US, but FDA says people are confused about this but they always did.
    https://www.fda.gov/BiologicsBloodV...ionsaboutBlood/DonatingBlood/#hemochromatosis
     
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  11. Forbin

    Forbin Senior Member (Voting Rights)

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    Oddly enough, once it became apparent that I was not simply recovering from the flu, the first thing my GP suspected was haemochromatosis. This was in the early 80's prior to the designation of "CFS," and if the neurologist I saw a few weeks later had ever heard of "ME" he certainly didn't tell me about it.

    By chance, my family had recently moved to small town in California with a fairly sizable Scandinavian population, so that's likely why my GP was familiar with haemochromatosis. I happen to have a Scandinavian surname, so that's what made him think it might be affecting me.

    I'm sure it was just a simple test of iron levels in the blood, but it was negative.
     
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  12. Subtropical Island

    Subtropical Island Senior Member (Voting Rights)

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    Sorry, what results on the iron panel are indicative of hemochromatosis? I googled and it told me they’re looking for ferratin but my iron panel only has HCT (hemocrit), hemoglobin and RBC.
    Might be it will make sense to me after a rest.
     
  13. Ravn

    Ravn Senior Member (Voting Rights)

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    Ferritin can be temporarily raised due to other reasons such as inflammation so a single elevated test rarely rings any alarm bells unless it's totally off the scale high. Usually they just retest a bit later and if that test is fine there's unlikely to be a problem.
    Wow, that doctor was on to it to even suspect haemochromatosis way back then. Here, haemochromatosis really only came onto doctors' radars after the development of the genetic test, in the 90s(?). In fact I had iron tests before then that were higher than you'd expect in a young menstruating vegetarian woman and the doctor was delighted with them at the time, I was one of the few women in his practice not borderline anaemic!
    My regular iron panel measures the following: ferritin, serum iron, transferrin, and transferrin saturation %. The doctor is most interested in ferritin and transferrin saturation %.
     
  14. WillowJ

    WillowJ Senior Member (Voting Rights)

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    That's good to know.
    It was high for about 2-3 years, iirc, but I don't know that it was amazingly high. It might have been early on in being ill, so inflammation could have been a good cause.
     

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