Confused mother of 11 year old girl with HH

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My daughter has one gene mutation for HH therefore should only be a carrier (that's what the doctors told me) however she is presenting all the symptoms and even though she has been receiving the monthly venesections her last blood tests showed her levels had raised from 114 to 184 in the space of 4 weeks when they have been coming down slowly but surely. We are waiting for more dna test results back as we have been referred to two professors in Cambridge but in the meantime has anybody been in this situation before?

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  • Posted

    I've never actually heard of anyone with a single gene receiving that treatment go be honest,and 184 is the lowest I've heard of anyone receiving the treatment too. Maybe each Dr deals with it differently
    • Posted

      All her symptoms pointed to HH and her levels started off in the 300s so it was clear to them she had some sort of iron overload disease and that's why they started her on the venesections. Although I know not very high to begin with she was vomiting, had raised liver enzymes, swollen joints and so on so whilst waiting for the exact dna test they started her treatment and it has reduced her levels and reduced her symptoms up until now. They were equally as confused when her test results came back saying she only had one gene mutation so couldn't understand why she was presenting these symptoms when she is only a carrier by rights. It's all very confusing, I hope her other results shed some light.
    • Posted

      Yes each doctor does treat it differently. Some are aware of the disease. Many are not. Do your own research. It helps.
    • Posted

      Thanks, I do feel we are receiving the best help and treatment we can. We have been referred to a number of doctors and professors who between them all is getting closer to finding out the main issue with her. It's been a lengthy process and educated myself on HH only to be told there is another gene mutation involved. Was just wondering if someone else had been in this situation while I'm waiting for the results.
    • Posted

      Sorry to hear this about your daughter.  She must be feeling terrible.  Have they tested for Gilbert's Syndrome too?

      I hope they find a treatable answer very soon.

       

    • Posted

      Hi sheryl,

      Thank you. It's not nice at all bless her. No not that I'm aware of. Does this sound symptomatic of Gilbert's syndrome? I can't say I've ever heard of it. (Typing it into Google as we speak)

    • Posted

      Try looking at the Gilbert's Syndrome forum here.  You will hear of a number of symptoms that they have although all their drs tell them there are no symptoms for GS!

      Diet, as in the elimination of foods that make them worse, seems to be the only key for them.

      But Juv HH is very serious, and I don't doubt that even one Juv HH gene can cause a lot of problems.

      Let us know how the consultations and results go.

       

  • Posted

    Hello - it is confusing. Which HH gene is she carrying? Yes carriers can take up iron quickly. And there may be other genes in play. When you see the reults from the dna tests you may find out more.
    • Posted

      Not sure without looking at her notes sorry, they do seem to think there is a mutation on a different gene now her other results only show one mutation of the HH gene it's just a long and complex process isn't it.
    • Posted

      I am from the UK but yes she has been tested for all the genes and was told she has one gene mutation for the Juvenile HH. She has had further gene testing done to check for other mutations that isn't the HH were just waiting on the results.
    • Posted

      I don't think HH is causing her issues,and I do find it odd as I mentioned that with such a low (but within normal limits) level she is receiving any treatment at all. It sounds like she may have something else causing her symptoms and your drs have kept too early into HH treatment which may not have been needed
    • Posted

      There is another issue besides her having the one gene mutation for Juvenile HH but their confident that venesections were the correct treatment for her. Her levels were over 300 to begin with and not very high I know in comparison to others getting symptoms but she had raised liver enzymes, swollen joints, vomiting, headaches and so on. The vomiting has been much better since her venesections . They want to continue with these on a monthly basis until she reaches about 75 then they can spread them out. Whatever the outcome of her genetics test she has too much iron in her body therefore needs to remove it. Small amounts of iron was found in her liver and heart also so I am happy with the treatment she's getting
  • Posted

    I am so sorry to hear your daughter is going through this - it's not easy as an adult let alone as a child.  Last year my ferritin levels were over 800 and after a numerous tests including the DNA test which confirmed I only had one gene which meant I was only a carrier.  I followed a few simple diet steps

    no cooking on or in cast iron cookware

    eating a boiled egg at least once a day - a simple boiled egg can reduce iron absorption by 28%

    cut out any vitamin supplements

    cut out fruit juice 

    cut out anything that had extremely high iron content mussels, black pudding, marmite, cornflakes, pate, dark chocolate or anything fortified in iron

    increased my calcium content

    Hope this helps

    eat only meat or fish once a day

    2 blood donations

    I am glad to say my levels have come down to 297 - it has been a long haul but I certainly can feel the difference

     

    • Posted

      Thank you Sarah,

      No it's not nice at all bless her. You say you only have one gene mutation. Apart from the raised ferretin levels, we're you getting any other symptoms?

      She has a healthy diet anyway but we've cut out and added in the necessary items. I'll try the boiled egg though, thanks for the advice.

      Her venesections were working great until her last test, I know it could be a one off but it's still worrying.

      I know there is another gene mutation involved which hopefully will explain her symptoms it's just a waiting game.

  • Posted

    V good dietary advice from Sarah - I see our discussion about using private labs has been deleted by moderator. That's sad because the need for information for this and other genetic defects is great and knowing where to go for more information can be time saving, even life saving and reduces worry. I wish you and your daughter good luck. Life long monitoring - and treatment if needed - is key.

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