1. Community
  2. Blood & Immune System
  3. Haemochromatosis

Genetic Test

Posted , 5 users are following.

amandabxxx
amandabxxx

Hi, Ive already wrote a post below but just wondering if anyone knows how long the genetic test takes. I had mine two weeks ago but have now been told it could be 4 - 6 weeks. My bloods came back showing that I am anemic so my doctor doubts I have HH anyway. I have all the symptons and now waiting to be referred to gastro for my third lot of investigation. I am thinking the doctors really are not clued up about this at the moment. 

1 like, 11 replies

11 Replies

  • megan36105
    megan36105 amandabxxx

    Posted

    I think it depends on where you live. It was a long time ago already for me, about four years, I guess, since I was diagnosed with hereditary hemochromatosis, but it was just done by a simple blood test and I got it back within a week. Where do you live?

    Does your doctor know much about iron overload? Because a lot of the times it can be mis-diagnosed as anemia because all they've done is test the iron in the blood and quite often people with haemochromatosis appear as if they are anemic because they have a low iron count in their blood, but then they have a high ferritin level, which is something different altogether.

    Did they test your ferritins and your iron level? Make sure that they do.

     

    • amandabxxx
      amandabxxx megan36105

      Posted

      Hi

      I live in west yorkshrie but my brothers took nearly 6 weeks to come back. They tested the ferritin and they said it was extremly low and my ts was 15%. Thats all I have had from them so far. Its starting to drive me crazy!

  • sheryl37154
    sheryl37154 amandabxxx

    Posted

    Yes, 16 yrs ago mine took 2 weeks (Australia), and 18 months later, my husband took 2 days.  I am surprised your dr requested a genetic test if he says you are anaemic.  Ask for a copy of your blood results as well as the genetic test when it returns so you can see for yourself.  There must have been something out of the ordinary for him to request the test, e.g. your ts% was high.  Normally you don't have to see a gastroenterologist unless your liver function test is out of whack which is indicating you have a liver problem but then some drs believe gastros own HH.  If your ferritin iron is high, and your liver ok, ask to see a haemotologist.

    If you don't have HH, but have a liver problem, your ferritin iron can be high too.  All investigations worth it.  Maybe you need a scan.

    PS:  Since the onset of my symptoms 25 yrs ago, most drs are still not clued up!

    • amandabxxx
      amandabxxx sheryl37154

      Posted

      Hi thanks for your reply. I was told I had IBS 25 years ago and have struggled ever since. I have undergone two lots of investigations with colonoscopy and endoscopy when the IBS gets bad but each time everthing is fine. Because I am suffering again they are sending me to have more investigations done but were waiting for the genetic test before referring me. The reason they are doing the genetic test is that both my parents are carriers of HH and my brother has just been diagnosed with HH and is having blood removed weekly. So far all they have said is my ferritin level is very low and ts is 15%. I will ask for all printouts when the genetc test is finally back, so far I have seen three different doctors who all seem a bit baffled by it.
    • sheryl37154
      sheryl37154 amandabxxx

      Posted

      Some people with HH can also have celiac disease.  It particularly occurs among those with Irish heritage.  Celiac make them anaemic, then when that is resolved with appropriate diet, they start loading iron.  Also helicobacter pylori can stop people absorbing iron.  My husband has HH but his ferritin iron stopped increasing, now down to 16 and his TS% is also very low, but discovered to have HP.

      If these two issues have not been mentioned, query them (even though they say they can't find anything).

      My IBS I had for years was actually 6 duodenal ulcers (pre HH), later when HP which thrives on iron was discovered, I was found +ve, plus the elusive abdominal pain of HH.

      Syndromes are usually symptoms of something, not a diagnosis - as I now tell my dr.

  • scott34
    scott34 amandabxxx

    Posted

    Dont let the doctors tell you that you can not have anemia and high iron at the same time. I have haemochromatosis and G6PD which causes anemia. G6PD is the most common genic disorder in the world. Most people have a mild form of it and dont even know it.
    • sheryl37154
      sheryl37154 scott34

      Posted

      Hi Scot, I was very interested to find out about G6PD but the explanation of it describes it as being largely limited to people of Mediterranean/Middle Eastern origins, and another variant to 10% Black Africans.  Generally those people are not prone to HH.  It was described as the most common enzyme disorder in the world.

      What origins do you have?  Do you have Hereditary Haemochromatosis and if so, which HFE fault/s do you have?

      An elderly lady once told me that she did not have to have venesections because she had the 'other' gene but did not know what it was.  So I am very interested.

    • scott34
      scott34 sheryl37154

      Posted

      I am of European descent and I was diagnosed with hereditary haemochromatosis through a liver biopsy. I only have one gene for haemochromatosis. I was diagnosed with G6PD through a blood test. And I do not know what the genetic factors are. I rely on on Veterans Affair (VA) for my medical treatment.
    • sheryl37154
      sheryl37154 scott34

      Posted

      Hi Scot, I think that explains it then.  If a genetic test shows that you only have one HH gene, then technically you do not have HH and will not overload iron genetically - you might from other reasons.  It sounds like you have one parent who has Celtic or "Viking" ancestry who passed on the HH gene and the other parent from the Med/Mid East who has passed on the G6PD gene.  It seems that you only need one G6PD gene for it to cause problems - different to HH where you need two.

      Is this how it is for you?

    • scott34
      scott34 sheryl37154

      Posted

      Not really I have stage 4 cirrhosis caused by iron overload. I should not have the condition but I do. They tell me it could be caused from a dozen faulty genes they can not test for. I only got a mild form G6PD though. Lol
    • sheryl37154
      sheryl37154 scott34

      Posted

      Heck, you could have mentioned that before!redface ! Seriously, that is so serious, and the G6PD did not counteract it?  Did you by any chance have glandular fever/Epstein Barr virus at some stage in your life?  I am finding that those who have had it, seem to suffer more with HH.

      I am guessing you are Australian.  Paul Cox, an Australian film producer, had to have a liver transplant before he was diagnosed with HH! Criminal.  If you look at Haemochromatosis Australia website, you will find some videos to view.  PC did these for HA, and he appears in the short one.

       

Back to top

Report or request deletion

Thanks for your help!

We want the community to be a useful resource for our users but it is important to remember that the community are not moderated or reviewed by doctors and so you should not rely on opinions or advice given by other users in respect of any healthcare matters. Always speak to your doctor before acting and in cases of emergency seek appropriate medical assistance immediately. Use of the community is subject to our Terms of Use and Privacy Policy and steps will be taken to remove posts identified as being in breach of those terms.