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one mutation..can you still have symptoms?

Posted , 3 users are following.

sunni13905
sunni13905

Hi,

After waiting and trying to locate missing genetic test I finally have results.  I don't have HH but have been told I do have one of the mutated genes. Which they never said and I forgat to ask.  My question is can you still have most of the symptoms but not have HH just because you carry the mutation? I have also been recently diagnosed with liver disease (NAFLD) and Diverticulitis at the same time.... The gastro doctor says this is the reason behind my high ferritin levels but I was only diagnosed in August and have had high ferritin since before January. Now it has gone up from 265 ish to just over 300. Any ideas?

Sunni

1 like, 5 replies

5 Replies

  • hemopatient123
    hemopatient123 sunni13905

    Posted

    Very low odds of loading iron with only one mutation. If you have H63D it's even lower than just C282Y.

    Additionally I agree with doctors assessment that your ferritin level is higher not from iron but from inflammation caused by your liver disease. Additionally it is not really that high. Get your transferrin saturation % checked to confirm lack of iron loading, if you feel more comfortable. Donate blood anyway. You can do so every 58 days for free in the US

  • jmcg2014
    jmcg2014 sunni13905

    Posted

    If there has been another reason found for high ferratin and your dr is satisfied with that,then you should be too.  Hemochromatosis typically is only found when the levels are around 1000 as a minimum,this doesnt mean levels below that dont indicate it - but if the gene tests show you dont have both mutated genes,then as far as i know -  you wont be symptomatic.  Sounds like your dr is actually on the ball - which many arent- be glad of that!
  • sunni13905
    sunni13905

    Posted

    thanks you've both put my mind at ease!
  • linda14338
    linda14338 sunni13905

    Posted

    Are you all a lot of medication if so that can arise uour liver function 

    mine was up in its 500 and when I came of the meds it went down 

     

    • sunni13905
      sunni13905 linda14338

      Posted

      only on  40 mg water pills to get rid of water retention..that they haven't figured out why I have....
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