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Referred to Hemotologist, what to expect

Posted , 3 users are following.

rewilson
rewilson

I'm trying to determine whether or not the Hemotologist with dianose me with Haemochromatosis. 

I have been having joint issues, fatigue, and numerous other problems that seemed to be blood sugar or thyroid related, but tests never found the culprit.

Last year, my doctor ran a full blood panel.  The only high number was Ferritin, which was around 550.  I don't have the other iron-related numbers, but they were at the high end of normal.  However, this year I had the same test ran again as a follow-up.  I've lost 8 lbs (good news) and my iron was 193, ferritin saturation was 59%, and Ferritin was 623.  This was after 24 hour fasting.  My doctor referred me to a hemotologist and I am still waiting on an appointment or for word that my general doctor needs to conduct more tests.

I'm 29 years old and have had joint pain in my shoulders, feet, knees, and back for about 4 years now.  I also feel fatigued even though I try to stay pretty active.

Should I expect to be diagnosed and if so, how often should I need phlebotomies with these levels?  Will I have to undergoe a biopsy or any other diagnostics?

Thank you.

1 like, 5 replies

5 Replies

  • Katy8103
    Katy8103 rewilson

    Posted

    Hi rewilson

    I was diagnosed with Haemochromatosis a couple of months ago. I'm 34 and my ferritin was 765 and transferrin saturation 78%.  I started treatment immediately and have fortnightly venesections at the local hospital.  I've had 4 so far and I'm feeling so much better. Like better than I've felt in years. 

    It it sounds like you could well have Haemochromatosis but luckily your ferritin isn't too high. They generally say that a ferritin level of 1000 and over will start to give you problems so I think you have caught it well before its done any damage.  Have you had liver function tests done? That's all you will need initially. They only generally perform biopsies if they think their may well be a chance your liver is damaged.   My liver function test came back normal and I'm sure yours would too.  

    I hear you about the joint pain. Ive been getting it in my hands although it only really bothers me if I'm trying to lift something heavy.   It's also improved a little since starting treatment.  

    I hope this has helped you a little.  Try not to worry. You are one of the lucky ones who have caught it early.  The venesections are no problem at all and you get free tea and biscuits smile

    Katy x

  • sheryl37154
    sheryl37154 rewilson

    Posted

    Sounds classic to me.  Ferritin >300 (males), TS% >50 (males) and you got the two main markers.  Of course your serum iron is very high too.

    You want to have aggressive phlebs at first, e.g. weekly.  Your life won't be your own for a while.  You don't need a biopsy really unless your LFT's indicate a problem.  Otherwise biopsies are over servicing. - generally gastroenterologists won't believe you have HH unless they do one of these, despite having a genetic test which proves you do.

    Ask for copies of all your blood tests to keep tabs on them yourself.  Eventually you will work out your optimal ferritin iron level when you feel best (after you have been 'de-ironed' down to at least <30).

    be diligent with your venesections.  read other hh posts to get more info re living with hh.  contact your country's hh assoc and talk to them, find out if there is a local support group.  all helps.

    good luck be="" diligent="" with="" your="" venesections.=""  read="" other="" hh="" posts="" to="" get="" more="" info="" re="" living="" with="" hh.=""  contact="" your="" country's="" hh="" assoc="" and="" talk="" to="" them,="" find="" out="" if="" there="" is="" a="" local="" support="" group.=""  all="" helps.="" good="">

    be diligent with your venesections.  read other hh posts to get more info re living with hh.  contact your country's hh assoc and talk to them, find out if there is a local support group.  all helps.

    good luck>

    • rewilson
      rewilson sheryl37154

      Posted

      I got a new doctor last year and right away he did a full battery of tests just to see if there were any issues.  Although nothing was a major concern last year aside from my ferritin being a bit high, everything was good.  This year, when he did it again, his system was able to make graphs showing the increases.  I thought it was pretty cool.

      I'm thankful that I had a doctor that ran so many tests.  Not that I feel like I'm dieing or anything, but I have read about quite a few people that have died from undiagnosed HH.  My doctor is retiring next month, so it was good that he caught this when he did.  The next one may not be as throrough.

      I received a call from the Hemotologist.  My appointment is Tuesday afternoon.  They require no additional bloodwork prior to the appointment.  I'll post again with an update on how it goes.

      Thanks!

  • rewilson
    rewilson

    Posted

    Update - I haven't spoken to my doctor yet, but I received a call from a blood donation center to set up bi-weekly donations for a year.  The lady said that the order said that the request was for treatment of hereditary haemachromotosis.

    The funny thing is that I can't seem to find any historical evidence of the disorder in either side of my family.  I may be the first one with both genes.

    • sheryl37154
      sheryl37154 rewilson

      Posted

      Yes, that is really quite possible.  Your ancesters were getting by with just one gene, then the atoms collided, and you got both.  It is also possible that none of the homozygotes did not overload/have symptoms - although I always think - yet!

      Think about what they died from.  I was the first to be diagnosed, although my father, in retrospect, certainly displayed all the symptoms.  And his mother died early from a liver disease although she never drank alcohol, and his father had the character of someone with untreated HH.  My mother and all my siblings are carriers.  My father's siblings and father died from cancers as well.

      My husband also has HH but no known history in his parents who had passed away before his diagnosis.  Both from cancers.

      On my father's side, his grandmother was Danish and his father Scottish (but with Scandinavian looks), and on my mother's side, Scots.  So I certainly got the heritage of HH.

      It is good that your dr has started the process by ordering venesections.  So you are on the way.

       

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