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Can I stop wondering now? Advice please.

Posted , 4 users are following.

Esperance1
Esperance1

I am a 59 year-old female, compound heterozygous for both mutations (C282Y/H63D). The genetic testing was done (following a tip-off from an older male sibling, not because of any particular symptoms)  in 2007 when I was 52 and still menstruating regularly and quite heavily. In 2007:

my serum ferritin was 41 ng/mL and

transferrin saturation was 36%.

 I had a hysterectomy in 2011 and was recently tested ( at my request: no particular symptoms of iron loading but I thought it would be worthwhile checking after  3+ years of no menstruating).  These recent results are:

serum ferritin 73 ug/L and

transferrin saturation is  51%. (The normal range shown for the latter is 17 - 57.)

So, I am wondering now if I can forget about all this or should I continue to keep an eye on this?

 

Any advice, insight would be much appreciated.

1 like, 7 replies

7 Replies

  • Helen_BA
    Helen_BA Esperance1

    Posted

    I would say that you definitely can't forget about all this and should be having regular blood tests and phlebotomies to keep your ferritin down to 50 or below. You sound a lot like me, I was diagnosed 10 years ago and am compound heterozygous for both mutations except I haven't had the hysterectomy and I kept menstruating well into my fifties. I now have a phlebotomy every 3 months just to keep my ferritin in a healthy range but recently I have developed painful joint problems which I am now battling, this occurred shortly after accidentally being made iron anaemic by too many phlebotomies done without blood tests. Apparently it is very common in people with hemochromatosis to develop joint problems and have hip and knee replacements I was told when I rang a hemochromatosis hotline here in Australiaand. Once joint problems develop I have been told by two doctors that they are irreversible, though lately I have found that drinking diluted cider vinegar and honey with my meals seems to be helping to alleviate the symptoms or at least stop them from progressing though i can't be sure as I am trying a lot of different alternative remedies at the same time, mainly because conventional medicines like Proxen and Ibuprofen, paracetomol and Aspirin don't seem to help much at all.
    • sheryl37154
      sheryl37154 Helen_BA

      Posted

      Hi Helen, I have not heard of people getting joint damage because of too many phlebolotomies (but there is always something different) and your joint damage would have developed over a long period of time.  It appears that is where your HH has decided to hit you.  It seems to be different for everyone.

      During the 9 years of whole body agony and extreme fatigue, including left side chest pain, that I suffered after having a hysterectomy, my left leg and hip was pointedly more painful and one day, when I stepped sideways it broke up.  Osteonecrosis - my blood was so thick with iron it could not get into the fine capilliaries that feed the bone, so my hip bone died and broke up.  6 weeks after replacing that one, my other hip broke up.  I was told to wait as long as poss before I had the surgery and after 4 yrs and being on max pain killers, I fronted up.  I could not bear it any longer, even including drinking cider vinegar.

      Arthritis is very common with HH, and as you were informed, it does not get better with venesections.

      The first major problems with HH appear to be to get diagnosed in the first place - drs don't always request the right blood test (Iron Studies).  Then to get a correct interpretation of those results.  Then to get proper management of the condition.  The best is to be referred to a Haemotologist.  It does not mean that they know about all the complications of HH but at least you get proper venesection management.

      Keep an eye on Haemochromatosis Australia in January for an online survey on experiences of diagnosis, education and management.  There is currently one requesting info regarding "cost of having HH" as well.  In order to increase the proper management of this condition, we need to support these surveys.

       

    • Esperance1
      Esperance1 Helen_BA

      Posted

      Thanks Helen. I had not previously appreciated how much individual variation there is in how HH is manifested. I am not familiar with cider vinegar for joint pain. It so happens that I do consume cider vinegar (with the mother) every day, but only because I like it.
  • sheryl37154
    sheryl37154 Esperance1

    Posted

    Hi Esperance, Always keep your Iron Studies under review.  It sounds like you are only loading iron slowly and I doubt that your dr will recommend a venesection at this stage but I would go and donate blood anyway as it is good for you whether you have HH or not.  The Blood Bank will test your Hb before donating and if it is too low, they will not take your blood, so you will not be allowed to become anemic from donating blood.

    What is your serum iron?  Is it high too?  If you have not done so, ask for copies of your test results so that you can keep an eye on it yourself.

    My son is heterozygous C282Y/H63D and his ferritin was 774 when he was 22.  He eventually went on 4 monthly maintenance venesections but because he lapsed he has to have them at 3 monthly intervals.  Everyone is different of course.

    I am homozygous C282Y with a lot of organ and hip damage because dr took 9 years to diagnose, then son tested, then husband who was found to be homozygous H63D (552) but he is now no longer loading iron.

    • Esperance1
      Esperance1 sheryl37154

      Posted

      Hi Sheryl and thanks.

      My GP had no-actioned on my results, quite understandably given that there is nothing very abnormal there. I went and donated blood a few days ago because I had seen you recommend that to other people. ( I am rather ashamed to say that this was the first time I have ever donated blood). My plan is to donate regularly now.

      My serum iron is 29.6 umol/L; the normal range given is 10.00 to 30.00

      I suppose I shall  just have to ask for testing every few years. (I was hoping to just forget about it, but it seems that with my genetic predisposition I shall have to be more responsible.)

      Sheryl, your medical history sounds awful. I have read that 9-10 years is the mean no. of years between symptoms emerging and diagnosis.

      As I said, I am pretty sure that I don't have any obvious symptoms. Sure I have some little aches and pains but no more than most of my 60ish friends.

    • sheryl37154
      sheryl37154 Esperance1

      Posted

      LOL!  I was thinking testing about every 6 months or yearly at least - don't take an chances with this.  If you keep up donations, yearly could do.  Good luck!
    • Esperance1
      Esperance1 sheryl37154

      Posted

      Oops! I certainly didn't intend to sound complacent. I shall probably have to convince my GP though.

      Sheryl, thanks again for your advice.

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