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Two copies of H63D? Does anyone else have this?

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molly94111
molly94111

Hi everyone, I have been struggling with some health issues for about 7 years now and finally did a genetic test. i originally did a 23-and-me test which said that two copies of H63D weren't likely to cause symptoms, so I focused my time learning about some other mutations and put HH out of my mind.

My doctor then did a Promethease test with the raw data from 23-and-me, which said i am likely affected by a mild form of hemochromatosis. We are doing some tests now to see if we are on the right track.

Everything I've read has mentioned different combinations of HFE mutations, but i cant find anything on two copies of H63D. My mother, her sister and their mother all passed because of liver cirrhosis, but they were also all heavy drinkers. I suspect this mutation played some kind of role ?

Thanks to anyone who can offer insight, thanks so much.

Molly

0 likes, 9 replies

9 Replies

  • heather29740
    heather29740 molly94111

    Posted

    I dont kniw about anywhere else in the world, but my iron levels were above normal and after that the doc sent away my bloods to get checked genetically abd the result was that i did have haemochromotosis no mention of any mutants or hc60 or anything just you have haemochromotosis. For the next ten years i have been getting venesected ( a pint if blood taken ) at regular intervals to keep the iron levels within reason.

    As far as i kniw you either have it , you dont have it or you are a carrier but it may be dormant.

    I would be interested to know myself as i have three twenty something children and they like me know sweet F. A. and many of the doctors dont kniw much either.

    Good Luck with your quest for answers.

    • sheryl37154
      sheryl37154 heather29740

      Posted

      Hi Heather, as I have said before, don't depend on drs to have too much knowledge of haemochromatosis. It is up to you to search and read. I don't know how you have gone 10 years without doing this. I got onto it as soon as I was diagnosed which was about when Google was invented. There is plenty of info out there. You can print it off and give it to your dr. And again, ask for a copy of your genetic test. If the dr cannot interpret it, you should be able to by now.

  • GillianA
    GillianA molly94111

    Posted

    If you search for H63D homozygous you will find many articles describing what we are finding out about the effect of having two copies of H63D (i.e., being homzygous for the H63D variant of the HFE gene.) You'll notice a lot of summaries saying something like, "H63D doesn't usually make much difference at all to iron handling," and at the same time you'll also find medical reports that suggest that having two H63D variants can make a difference, at least for some people - including increased risk of cirrhosis.

    The Iron Disorders Institute has a brief summary written in 2010 called "H63D: The Other Mutation" that may be of interest for your doctor?

    Your doctor might also be interested in a 2014 case report called "Hereditary Hemochromatosis in an Adult Due to H63D Mutation: The Value of Estimating Iron Deposition By MRI T2* and Dissociation Between Serum Ferritin Concentration and Hepatic Iron Overload."

  • eric06641
    eric06641 molly94111

    Posted

    Two H63D gene mutations is quite rare compared to the other mutations but like the other mutations in this category they can cause hemochromatosis .

    Like you mine are both H63D mutations which gave me hemochromatosis.

    The problem is this mutation is much rarer then the others so they don't have of much data on it so its considered minor compared to the other forms.

    The excess iron can cause symptoms

    Joint pain

    Abdominal pain

    Fatigue

    Weakness

    Later signs and symptoms of the disease may include:

    Diabetes

    Loss of sex drive

    Impotence

    Heart failure

    Liver failure

    The good thing is is actually easy to manage it with blood draws ever few months which forces your body to use the excess iron to replace the blood that's removed.

    In fact i have to do one tom.

    Have your doctor run the tests for your iron levels and if high you can start the blood draws to keep it in check.

    Its not fun but its also not the end of the world and something that can be kept in check.

  • sheryl37154
    sheryl37154 molly94111

    Posted

    Sometimes homozygous H63D does not cause any symptoms, and sometimes it does. If your ferritin is higher than the reference range for your age, then it is very beneficial to have venesections. If not higher, then your bloods should be monitored, at least once a year.

    There is a lot of research information out there for you to read and educate yourself (and your dr).

  • Jody1974
    Jody1974 molly94111

    Posted

    Molly, I know you originally wrote this 2 yrs ago. I was recently dx with 2 H63D as well. There is still not a lot of information regarding this. My sister also has been dx. Have you found any information places you could share? I am in the medical field & have done a lot of research. TIA!

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