The 12th Invest in ME Conference, Part 1
OverTheHills presents the first article in a series of three about the recent 12th Invest In ME international Conference (IIMEC12) in London.
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Hemochromatosis. Iron overload- A common gene mutation

Discussion in 'Genetic Testing and SNPs' started by Hotch, Jul 11, 2016.

  1. Hotch

    Hotch Hotch

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    hi everyone,

    Just thought I would alert you to the possibility of Hemochromatosis (iron overload). It is a pretty common genetic disorder. My CFS has been going downhill the last 2/3 years. I was diagnosed with Hemochromatosis 6 months ago. I read up on it and thought I was in the beginning phase so I had the venesection and didn't think too much about it after that. A couple of months later my exhaustion amongst other things got progressively worse and very quickly. It didn't cross my mind that Hemochromatosis could be doing this. However, when I had my next venesection (3 months later than I should have) I improved almost immediately!

    For the 2/3 years I just automatically thought it was the CFS that was getting worse. I just want others to know that sometimes it can be other things totally unrelated toCFS that can be playing a part. To be tested for hemochromotosis it is a simple blood test and it is free (at least it is in Australia). You could just ask your dr to add it onto the next blood test list. If found early hemochromatosis is fine. However if left it can do a lot of damage and can be fatal. I hope this helps someone be tested early rather than go through a few years suffering extra from an easily treated disorder. Cheers to all, Hotch
     
  2. ukxmrv

    ukxmrv Senior Member

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    good idea to let people know about common misdiagnoses every now and then

    There was a TV documentary on UK TV a good few years ago and that led to requests for testing from our local ME and CFS members to their GP.

    I try and bring it up if someone mentions that they feel better after a blood draw
     
    Paralee and merylg like this.
  3. Paralee

    Paralee Senior Member

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    It seems to go along with hyperparathyroidism and pseudo gout. Not all the time but if you develope one or the other start looking at your calcium and parathyroid levels. I think they are not required to be in any order.
     
  4. Hotch

    Hotch Hotch

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    Hi Paralee,

    Thanks for that. I did not know. I actually do get sore wrists sometimes and thought I must have been doing something that was hurting them. But maybe not! Funny you should say to look at my calcium level, I am having a blood test next week that includes free calcium. Do you have hemochromatosis?
     
  5. Paralee

    Paralee Senior Member

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    @Hotch, I am rounding up my tests of iron panels (the few that we get). I have had hyperparathyroidism and now my joints want to scream pseudogout but the osteo says osteoarthritis. I have my doubts but hope he's right, pseudogout is really not "pseudo" as far as having something wrong with you. Good luck with your calcium check.
    Also let me add this, a normal calcium level is not proof there are no parathyroid problems. If you could I'd get a PTH test done along with the calcium. Hope it's nothing. Let me know if there's something you need help with. Paralee
     
  6. Crux

    Crux Senior Member

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    Hi,

    I just learned that I also have iron overload. I only have one copy of the common genes for hereditary hemochromatosis, and it's the mildest most common one. My symptoms have been pretty severe. I believe this may be the cause of my conditions ranging from, severe fatigue, to pituitary insufficiency, to hypogonadism, and so on. An iron panel revealed the overload.

    Unfortunately, many folks are becoming very ill because they are told they don't have iron overload - hereditary hemochromatosis, HH, because these classic mutations haven't been found, or the iron panel has discrepancies.

    Other problems with diagnosis of iron overload are that many conditions will present with anemia, just not iron anemia.

    Here's a post of Dr. Mercola interviewing Gerry Koenig. Both of them have a type of iron overload. Dr. Mercola's is beta thalassemia, Gerry Koenig's is an hemolytic anemia.
    http://articles.mercola.com/sites/articles/archive/2016/06/12/iron-overload-disorder.aspx

    Iron Overload is associated with many neurodegenerative conditions, such as Alzheimer's, MS, Parkinson's, ALS, etc.
     
  7. alicec

    alicec Senior Member

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    I think the Mercola article is very misleading. According to him, elevated ferritin = iron overload.

    Actually, ferritin is an acute phase protein and is elevated in many situations, most notably inflammation/infection. Only about 10% of elevated ferritin is due to iron overload and this measure alone is not sufficient for blood banking services to do venesection. Here is an article discussing the issues.

    The most useful test for evaluating iron overload is transferrin saturation. >45% is indicative of haemachromatosis. Serum ferritin is useful for monitoring venesection if this is undertaken as treatment.

    There is another test which can be helpful in equivocal situations. This is soluble transferrin receptor, which is inversely related to iron stores. Unlike ferritin, it is not influenced by inflammation etc. More usually it is used to clarify anaemia which ferritin is elevated for other reasons. However the opposite situation can also apply - ie in iron overload, transferrin receptor will be low.

    Here is another general article which mentions the test.
     
    hixxy likes this.
  8. Crux

    Crux Senior Member

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    Yeah, I wanted to press the dangers of iron overload and forgot that they didn't include an iron panel in recommended testing, though I remember Dr. Mercola mentioning getting one in the video.

    I got an iron panel through life extension,and it included : TIBC, UIBC, Serum Iron, Iron Saturation, and Serum Ferritin.
    They include ranges, which can vary wildly.

    So, yes, a full iron panel from a reputable lab is recommended. Ferritin alone is not enough, but is usually used alone once iron overload is diagnosed.

    I haven't found the consummate iron panel interpretation with optimal levels, but Chris Kresser, brought some up in his podcast.


    I believe he said that :

    Serum Iron is unreliable.

    Ferritin should be under 100. ( even lower once phlebotomy is begun)

    Iron Saturation or TS should be less than 45%.

    The range that life extension gave for normal TIBC is : 250-450. ug/dl ( low TIBC is iron overload)
    UIBC range is : 131-425 ug/dl ( low UIBC is iron overload )
     
  9. Crux

    Crux Senior Member

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    This article spends a great deal of discussion about the use of testing ferritin.

    The ferritin test is not to be dismissed. It is to be included in an iron panel, and considered along with the other results.
     
  10. taniaaust1

    taniaaust1 Senior Member

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    Same here, I have that as well. I found out about this by my 23andME test back when they used to tell you if you had any of their range of inherited disorders.

    Fortuantely that milder one with only one copy apparently isnt usually an issue. Males more so get issues with hemochoromatosis as they dont bleed every month. Females are far less likely to have issues. (I still have been classified as anemic at times since Ive had the ME/CFS)

    This is a very good thing for doctors never to miss as this can severely damage organs.
     
  11. Crux

    Crux Senior Member

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    I agree, the thing is... there are many people with iron overload who don't have the classic genetic mutations. I've read their accounts. This includes young premenopausal women.

    I just don't want to see them dismissed because they don't fit the standard.
     
  12. Crux

    Crux Senior Member

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  13. alicec

    alicec Senior Member

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    I wasn't dismissing it but was pointing out that we need to understand what an elevated level might mean, hence the articles which discuss this and other tests in iron panels .

    Only about 10% of elevated ferritin results means iron overload.
     
    Mogwai likes this.
  14. hixxy

    hixxy Senior Member

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    I must say that I think any good quality experienced doctor should test for haemochromatosis before making an ME/CFS diagnosis. I've been tested 3 separate times by 3 different doctors in the last 6 years.
     
  15. Hip

    Hip Senior Member

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    Your 23andme results will tell you if you have any mutations in the HFE gene that can lead to hemochromatosis.

    I found out I have a one mutation in my HFE gene, but 23andme said that with this mutation, I will not typically be prone to higher levels of iron in the body, but can pass the mutation to offspring.

    Here is the info on the 23andme hemochromatosis page, and the various types of mutations that 23andme test for (the text in green is the one that applies to me):

    Genetic Results

    Understanding Your Results

    Mutations in a number of genes can cause hereditary hemochromatosis (HH). The HFE gene is most often linked to HH, and 23andMe reports data for the three most common HFE mutations — C282Y, H63D, and S65C.

    At least 17 additional mutations in the HFE gene (not reported here) have been linked to HH, but all of them are very rare. Sixty to 90 percent of people with HH have two copies of the C282Y mutation and are prone to higher levels of iron in the body, which in a small percentage of cases leads to clinical symptoms of hemochromatosis such as liver disease and arthritis.

    Individuals with any other combination of these three mutations usually do not develop clinical symptoms or typically have only a mild form of the condition (read more in the technical report).

    Other genetic and non-genetic factors also influence whether someone with one or more of these mutations goes on to develop hemochromatosis. Keep in mind that it is possible to have another mutation that causes this condition that is not included in this report.
     
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