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haemochromatosis???

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s230406
s230406

Hi, i visited my GP recently after 6 to 8 months of extreme tiredness, lethargy, weakness, headaches, dizziness, palpitations, assuming it was menopause (hysterectomy 6 years ago, kept ovaries). Bloods revealed increased iron levels, fasting bloods one week later still showed high iron and now I have a letter saying I have to have a haemochromatosis gene test. Of course I've just googled it and I'm horrified! The recent fat stiff sore finger joints seems to also fit in here perfectly. Is it really likely to be haemochromatosis, how long will the blood test results take? I only have this letter to go on for now, won't see GP until the results are in. Thankyou.

1 like, 18 replies

18 Replies

  • Katy8103
    Katy8103 s230406

    Posted

    Hi S230406,

    I too have just had some blood tests done which revealed high iron and ferritin levels indicating possible Haemochromatosis.  Like you I am waiting on the results of my genetic testing.  My doctor said the results should take 10 days to come back but I think it can differ depending on where you live.  If you ring your doctors they should be able to advise.  

    It is quite a shock when you receive the news that you may have a genetic condition which can lead to serious problems if left untreated. I was the same but after talking to the lovely people on this forum aswell as other support groups I am feeling much more at ease with the whole thing.

    I suspect you have already done some research so you may know that it is one of the easiest conditions to treat.  Treatment consists of regular venesections (like donating blood) to remove the excess iron from your blood.  Once your ferritin levels reach a safe level, you will just have to have 3 or 4 venesections a year to maintain the levels.  A person who receives treatment can expect to live a normal long life. 

    do you know what you ferritin level is? Symptom-wise I too have the stiff joints and lethargy.  Apparently, symptoms should improve once treatment starts. 

    I know its scary but the main thing is that you've caught it and can be treated. 

    I have also just joined the Facebook support group for the Haemochromatosis society. It's amazing and the people are so friendly and just want to help.  I would recommend joining. 

    Katy x

    • s230406
      s230406 Katy8103

      Posted

      Thanks Katy, yes bit of a shock as I fully expected to be told all ok, take some vitamins or something. Im still hoping it's not hh but I'm assuming it may well be given the results so far and the fact that I'm irish. Hopefully if it is we've got it early and it will be easily enough treated. The letter only arrived today so I know nothing more. When I go in for the gene test on Monday I'll ask what the ferritin result actually was. Thanks for your words of wisdom and the support. S
    • Katy8103
      Katy8103 s230406

      Posted

      Your very welcome.  Let me know how you get on Monday. 

      Katy x

    • sheryl37154
      sheryl37154 s230406

      Posted

      Please ask for copies of all your blood tests to keep, including your genetic test.  Let us know what your TS% is too, it is an important marker for hereditary haemochromatosis.

      Did symptoms start almost immediately after hysterectomy?  Mine did, but gp took 9 years to diagnose - only when my hip broke up from osteo necrosis caused by my blood being so thick with iron it could not get into finer capilliaries which feed the bone.  6 years is still too long.

  • s230406
    s230406

    Posted

    Hi Sheryl

    Yes I suppose it did start after the hyst.  Maybe a year later, initially I felt great to be rid of the fibroids and pain.  I did see my GP a couple of times re tiredness and had thyroid checked but it was always ok so I just got on with it.  But I always felt "off", I suppose I put it down to being a busy working mum.  Then about 2 years ago I decided I was sick of feeling sick and I would take control so I thought exercise and a diet overhaul was the answer.  I started doing weight training and circuits lost 2 stone and for a while felt great, energised. But about 8 months ago I seemed to hit a wall,literally, despite training up to 6 times a week I wasnt getting any more results and felt awful again, tired, weak and low. I have had to reduce training to two to three times a week and reduce the intensity. I just feel totally wiped out sometimes.  I thought my ovaries were packing up and it was the menopause.  It took me until 2 weeks agao to go to GP to ask for a hormone screen which is when she discovered high iron levels, then did a fasting iron profile , still high and is now doing gene test and LFT. So I suppose she must be pretty sure thats what is is when she is doing those. I am hoping the LFT is precaution and my levels arent so high she suspects liver damage. Its maybe just as well that I haven't touched alcohol in four years. In hindsight now of course it is all falling into place, scanty 1 or 2 day periods before the hyst, fingers stiffness and pain, deep hip pain, pelvic pain, mood swings, fogginess, alongside the lethargy and weakness. Oh and I have practically no leg hair anymore, which I thought was great until I saw that it too is symptomatic of HH. I'm in NI and wondering what way the treatment works here, local hospital or blood transfusion centre, how long do the labs take with results etc. There doesnt seem to be a NI support group. Thanks to you both for the reassuranc and advice.  I'm thankful to be getting it diagnosed early.....if indeed it is HH, and hopefully before any damage done and for the NHS to be paying for it.  

  • Katy8103
    Katy8103 s230406

    Posted

    S,

    I had a full blood profile which included the LFTs as standard.  They came back fine.  My ferritin level is 750 so the doctor said that she wouldn't expect my liver to be damaged with this level.  Like Sheryl says, get a copy of your blood results. I asked for mine and it was no problem at all. They just do a print out. I've found it useful and reassuring to do some of my own research based on my results on forums such as this one. 

    Your symptoms seem seem to correlate with mine.  I used to go kickboxing every week. The next day though I would wake up and feel like I'd done 10 rounds with Mike Tyson.  I was so weak. It would take a couple of days to get over it. I never twigged back then but it all makes sense now.

    My periods have also become very scanty in the last few months. I'm hoping that everything returns to normal in that department as me and my partner were in the middle of IVF treatment and still want to have children. 

    Im not sure about how things work in NI but my treatment will be at the local hospital in the Haemotology Day Unit.  I'm sure if you speak to your doctor they should be able to give you some more information. 

    Katy x

     

    • s230406
      s230406 Katy8103

      Posted

      Thanks Katy, I will ask for copies of results. Good luck with the ivf...... My 12 year old twins were conceived with ivf, couldnt conceive due to endometriosis, I wonder if there is a link..... Interesting that fertility problems are part of hh.
    • sheryl37154
      sheryl37154 s230406

      Posted

      I have endometriosis too (can still be active after ovaries removed - as oestrogen keeps it active - progesterone is necessary to reduce it) and yes, I believe it is connected.  Imagine, all those spots of endo are full up with ferritin iron too in your abdomen.  After my diagnosis in 1998, I participated in a HH forum in the US, and when I mentioned having endo, I was flooded with responses from other females with HH (and endo)!

      No research on it though.

  • Katy8103
    Katy8103 s230406

    Posted

    Thanks S,

    lovely to to hear IVF worked for you. Twins, wow! smile

    Our fertility problem was actually male factor as my partner had chemo in his early twenties.  Never thought it might be a problem with me but it looks like it may have been a cause of my two miscarriages. 

  • sheryl37154
    sheryl37154 s230406

    Posted

    Katy has said it well, so I won't repeat.  Your dr should do LFT tests every 6 months at least.  Go with as aggressive venesection as you can to get that ferritin iron out of your organs fast.  My haemotologist brought me down to the 'teens before allowing it to come back up with more distanced venesections (started with weekly).

    My optimal level is 34 - goes up to <60 when="" 3="" monthly="" maintenance="" venesection="" due,="" then="" a="" venesection="" of="" 450-500mls="" is="" worth="" about="" 24-25="" units="" of="" ferritin="" iron.=""  make="" notes="" on="" your="" printed="" test="" results="" till="" you="" work="" out="" when="" you="" feel="" best.="" all="" those="" symtoms="" are="" certainly="" indicative="" of="" hh="" and="" are="" what="" i="" had.=""  i="" had="" ls="" chest="" pain="" too,="" so="" it="" was="" depositing="" there.=""  best="" advice="" i="" got="" from="" a="" specialist="" cardiologist="" -="" it="" can't="" be="" drawn="" out="" directly="" from="" the="" heart,="" or="" cut="" out="" -="" just="" keep="" up="" those="" venesections.="" with="" your="" hip="" pain="" -="" sounds="" like="" mine="" -="" ask="" for="" an="" x-ray="" so="" you="" can="" see="" what="" is="" happening="" there="" and="" save="" up="" for="" hip="" replacements.=""  current="" research="" indicates="" that="" joint="" damage="" is="" not="" reversible.=""  hopefully="" it="" can="" be="" slowed="" down.="" i="" have="" about="" 6="" hairs="" in="" total="" on="" my="" legs="" -="" a="" nuisance="" -="" why="" can't="" these="" go="" too?=""  no="" underarm="" hair="" for="" a="" long="" long="" time.=""  this="" is="" a="" bonus.=""  i,="" too,="" did="" not="" drink="" alcohol="" for="" many="" years="" and="" luckily,="" so="" far,="" i="" don't="" have="" any="" liver="" problems.=""  having="" said="" that,="" even="" those="" who="" never="" drink="" at="" all,="" can="" end="" up="" with="" liver="" problems.="" i="" was="" put="" off="" with="" thyroid="" tests="" -="" always="" ok,="" menopause="" -="" even="" though="" i="" was="" using="" hrt="" implants,="" working="" mother="" -="" well="" i="" was="" before="" i="" had="" hyster="" too.=""  too="" easy="" to="" call="" cfs="" but="" told="" dr="" that="" cfs="" is="" a="" symptom="" of="" something,="" not="" a="" diagnosis.=""  i="" was="" superwoman="" before="" hyster.=""  won't="" bore="" you="" with="" details,="" you="" know="" what="" i="" mean.="" you="" need="" to="" know="" your="" ferritin="" saturation="" %="" too.=""  it="" is="" a="" very="" important="" marker="" for="" hh.=""  ="">45 indicates HH.  And it also tells you how much your body is sucking iron into your organs.  Mine is often 100%, one time is was 107%!!!  If this is as high as that, it may never go down too much.  My iron is always high too.  The only level low now is ferritin which indicates how much is stored in my organs.  So have to keep on venesecting so it does not build up again.

    Your first degree relatives should be entitled to a free GENETIC test.  Don't let drs fob them off with just Iron Studies.  Iron Studies cannot tell if your relatives are carriers or not and this is important to know too so that their children and their childens' children can be monitored.

    And when these venesections feel too much, just remember it is better than chemo!

    One in 80 with Irish Heritage have HH.  One in 200 for the rest of us.  One in 7 are carriers.  It is criminal that this genetic conditon has been ignored since the 1800's when it was first recognised.  We, in Australia, are fighting to have everyone screened for it so that a lot of us don't end up so disabled and unable to work, and a drain on the health system.

     

    • s230406
      s230406 sheryl37154

      Posted

      Endo and HH must be connected! Why am I not surprised that this is not researched? As you say Sheryl, criminal that HH is not researched and tested for more, especially here in Ireland! I've never heard of it before and yet it has strong Celtic links. I hadnt connected the chest pain I get often at night with HH but it all seems to fall into place now, a really heavy intense pain that had had me considering calling an ambulance in fear of a heart attack but I've always held off thinking I was being dramatic. Now I'm thinking another HH symptom. Of course im not actually diagnosed yet but with the bloods so far and the gene test and lfts on Monday it's looking likely. Sounds like I'll need to have a long conversation with my GP. I hate this, I don't want to be running to appointments and doctors all the time but as you say, could always be much worse so I'll get on with it and be grateful its not something else. Thankyou both for all the info and good luck with your treatments. X
  • rubytuesday
    rubytuesday s230406

    Posted

    Hi just to add that if you are diagnosed with HH then you should join the Haemochromatosis Society. If you do you will get a little book which is great because everytime  you are tested or go for a vene  the nurse will enter all your results and you then have a copy. Years later it is good to have all the results because they are so easily forgotten. My little book is nearly full now so I will have to get another from the society. The other important bit of information is to know what your genotype is. - I am C282Y/C282Y you will be told this when you get the print out from the Laborotary who looks at your DNA results -  if your Dr asks for this to be done - get a print out of this information for you to keep. When tested you need to know what your ferritin is so it can go in your book.  I had 2 new knees before I was diagnosed! I am on 3 monthly checks  -if I am over 50  (even 51 !) I have a vene. It is a way of life now and just feel I am lucky to be one of the ones to get a diagnosis! This is a disorder not a disease! Hope all goes well and you get all your results so you can get started on vene if it is necessary.
    • s230406
      s230406 rubytuesday

      Posted

      Just to let you all know, I had the gene test and lft test today, nurse said results will be back within the week. I got copies of the previous blood test, ferritin 256, saturation 60%and serum iron 37. So they don't look too bad so they? Looks like it is GH and we got it early, which is great. So wait for the results and then we'll see what's next. Hour you are all well.
    • Katy8103
      Katy8103 s230406

      Posted

      Hi S,

      They don't seem too bad at all.  My results are Ferritin 765, Saturation 77% and Serum iron 33. Your serum iron is a little higher than mine although have no idea what that means!  The main thing is you've caught it early and can get treated. It will probably only take a few venesections to get your levels down. 

      Hope you you feel a bit more reassured now.

      katy x

    • sheryl37154
      sheryl37154 s230406

      Posted

      Good ferritin level for having had a hysterectomy 6 years ago.  And your TS% definitely indicates HH.  Maybe it is the less aggressive H63D/H63D.  And that is why you have been experiencing the symptoms only in the last 6 months.

      Serum iron is the amount of iron travelling around in your veins, your TS% says 60% of your serum iron is available to be stored, and your ferritin iron is the amount already stored in your organs.

      Katy has much more stored in her organs (765), and 77% of her serum iron (33) is available to be stored - AS AT THAT TEST.  At some time she must have had more serum iron in her veins to store 765 in her organs.

      As we are told it is not a good idea to limit our iron intake, I don't know how serum iron can be controlled.  Mine is always high (think I have already said that), even though my ferritin is quite low now.  My haemotologist never seems to be interested too much in the serum iron, nor the TS% (after diagnosis), as long as the ferritin iron is kept down.

    • s230406
      s230406 sheryl37154

      Posted

      Katy and Sheryly, I understand it now , thanks that was a very good clear explanation. I've been spotted early thanks to my wonderful GP so it should be easily sorted and no damage done I assume. Feeling much better about it all. Hope you're both well. X
    • s230406
      s230406

      Posted

      Oh dear, I only realised yesterday that the multi vitamin I bought after the 2nd test when I still had never heard of hh has 100% RDA of iron in it. I only took four between the second test and yesterday when I realised and chucked them out. Have I done much harm do you think?
    • sheryl37154
      sheryl37154 s230406

      Posted

      In short, no.  Maybe your serum iron would have been 35 instead of 37 but not long enough for any impact.
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