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Confused results

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stephanie_10
stephanie_10

I recently had the hereditary heamochromatosis blood test done and it showed that I was heterozygous for the c.187C-G, p.(His63Asp) mutation, but negative for the c.845G-A p.(cys282Tyr) mutation.

The results say that the role of p.(His63Asp) as a causative agent in H.H., in the absence of p.(Cys282Tyr) is unknown. Therefore this result does not confirm or refute the diagnosis.

Has anyone else had this result please? I have high hb and serum ferritin levels also.

Thanks for your time.

1 like, 3 replies

3 Replies

  • BjornS
    BjornS

    Posted

    I had my DNA blood test done in October 2013 and it showed I carried only the p.His63Asp common mutation variant. I have high Serum iron levels (39 umol/L) and high Transferrin % Sat (74%).

    My GP will continue to investigate with Liver scan and new blood tests for Hepatitis.

    I'm 50 years of age, male northern European.

    Bjorn

  • megan36105
    megan36105

    Posted

    Exactly how high are your levels? Because I know that people can be carriers of Haemochromatosis but not actually exhibit symptoms of it.

    Both of my parents are carriers which is the reason why I ended up getting it (and so far I'm the only child out of four that happened to get it. So not fair).

    I'm wondering how high they are because iron levels can fluctuate based on the types of food that you're eating. If you eat a lot of spinach, red meet, beets, anything like that, your iron levels can shoot up without you actually having iron overload.

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