hemocromostosis and my siblings

Posted , 3 users are following.

Hello

My siblings have been tested for hemocromostosis but have been told they don't have it. I find this strange as I have it

1 like, 4 replies

4 Replies

  • Posted

    Real Hereditary Haemochromatosis involves having 2 HFE genes.  One from your mother and one from your father.  If you have been genetically tested and this is the result, then one of more of your siblings could be carriers (1 gene).

    However, if your mother and father were only carriers (1 gene) then they may have inherited both negative genes.  And you got the jackpot - both positive genes.

    Verify if they have actually been genetically tested and not just an Iron Studies test which may have resulted in normal ferritin iron levels.  If they are still young, or menstruating, then their ferritin would probably still be in a normal range.  Transferrin Saturation % is an important marker also.

    If they have not got printed copies of their tests, tell them to ask for them from whoever ordered the tests.  Check them out for yourself to identify the results.

    If they were not genetically tested, then problems could arise in the future but HH could be dismissed because of earlier results.  Not good.

    I hope this helps.

    • Posted

      Sheryl it certainly does. Only 3 of my siblings I believe have the same father as I do. One of them has died and my sister is 55 years old and has been told she hasn't got it! She and my other brothers who I believe to have different fathers have also asked for the test for hemochromodtosis and explained that I have it. So looks like its only me. As you say they could be carriers.

  • Posted

    If your siblings' genetic tests confirm that they are Carriers (technically they do not have hereditary haemochromatosis), it is important that their children are aware of it and that they be tested.  Because if their parent is a Carrier and their mother is a Carrier, they could possibly have inherited 2 positive genes.  If not, they could have inherited 1 pos gene and therefore pass it on to their children (your siblings' grandchildren).

    And so it keeps going.  One in 200 has 2 pos genes for haemochromatosis and one in 7 are Carriers.  So there is a lot of us around to keep it going.

    I am one of 5 and only I inherited 2 pos genes.  The other 4 inherited 1 pos and 1 neg.  As a result of my diagnosis, my son was tested and he was C282Y/H63D.  I am C282Y/C282Y so the other gene (H63D) could only come from his father, who, when tested was H63D/H63D.  So all 3 of us have hereditary haemochromatosis and front up for venesections.

    As you can see it is very important for all to be genetically tested so that all family members have full knowledge and that knowledge is passed down the line.  A copy of the genetic test should be kept with Wills, so that it does not get lost.

     

    Let us know how it turns out for your family.

     

  • Posted

    It's the same for me. I have three sisters (although two of the are half-sisters, technically, so that definitely changes the chances depending on whether or not their mother has it/is a carrier), and so far I'm the only one that has it.

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