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Confused as to know what to do?

Posted , 5 users are following.

lillian67415
lillian67415

Hello,

I have Haemochromatosis/Hetrozygeous and live in Australia. I am a 55 year old female.  I had a hysterectomy when I was 26 years old for pain. I have called the helplines here but they don't seem to be able to supply much information.  Because of work it is very difficult to see a specialist and am hoping you might be able to help me with an opinion.  My youngest daughter also has the condition.

I had an iron test last week and it read:

Iron 25.0

Transferrin 2.4

TIBC  54

Saturation 46

Ferritin  219

AST 35

ALT 32

Bilirubin 28

The helpline said the Ferritin shouldn't be over 200 for a woman and the Saturation was high. She also told me the iron is being stored in my organs now and this was not good.

 I feel very unwell, I have very sore joints and am so extremely tired.  I virtually need to drag myself out of bed in the mornings.  I have made an appointment for a vena section but am also concerned my liver may be affected due to the AST, ALT and Bilirubin results. I had a Bilirubin reading of 19 in 2016. I have constant abdominal pain.  

Hoping you can help me to understand my results

Warm Regards

Lillian

 

1 like, 10 replies

10 Replies

  • lynnsk1
    lynnsk1 lillian67415

    Posted

    Best and first thing to do is phone your divers and get them to explain the results and findings for you. Each case may present different so better get proper diagnostic from your results from a professional like your personal doctor who can give you time to understand them.
  • sheryl37154
    sheryl37154 lillian67415

    Posted

    As Lynnsk says you must go and keep in touch with your dr.  You must help yourself to get help from a dr.  Try and keep seeing the same dr if you have found one that knows what he/she is doing.  It is inconvenient, but if you don't look after your health it will only get worse.

    Your Iron Studies levels are not very high but it is good to get started early.  As from what you say you are compound heterozygous (probably C282Y/H63D) (like my son),  and you could end up not having to have too many frequent venesections.  Although you should get your ferritin level down to <50 to begin with.  Your TS% (46%) is not high at present, so that may not take very long.  You just have to bombard yourself with appointments to begin with.  If you had a hysterectomy at 26 and you are now 55, it has taken a long time to build to that level.

    Get dr to investigate your liver problems more thoroughly.  Be assertive if you have to, or change drs.  You must educate yourself in order to get appropriate treatment.  Always ask for copies of your tests so that you can keep an eye on them yourself.

     

    • lillian67415
      lillian67415 sheryl37154

      Posted

      Thank you so much for your advice Sheryl and Lynn.  I was diagnosed in 2005 with H63D, I just read on the report that heterozygotes can develop haemochromatosis.   Can you provide more information on thhe H63D gene please?   My iron levels have been up and down ever since, but I have never felt so extremely unwell as I do now. I will follow your guides and see a specialist.  (it is very difficult as I work long hours)
    • sheryl37154
      sheryl37154 lillian67415

      Posted

      The H63D gene is reportedly a mild HFE.  My husband is homozygous H63D and when diagnosed at his 43, his ferritin level was about 552.  After a few venesections to bring it down to <50, his ferritin level never increased again.  Unlike my homozygous C282Y, which is very aggressive.

      Those that research HH say that H63D heterozygotes are very unlikely to develop haemochromatosis.  That is why your levels are low in comparison.  But your report wants your dr to monitor your levels.

      However, you could have fatty liver, though this is not generally indicated in a blood test.  Something else could be going on with your liver and that needs to be addressed, and this is most likely what is causing you to feel unwell.  Anyone can develop iron overload, not necessarily from hereditary haemochromatosis, if their liver is not healthy.

      Your employer should allow you time off to see a specialist - do you not have sick leave entitlements?  Rec leave you can dip into?  You just have to bite the bullet and go, or you will destroy your health.  We all had to do same.

       

  • garrett82
    garrett82 lillian67415

    Posted

    Personally, my ferritin, ast and alt is way more high. that said, i feel you on the tiredness. Eat fish, drink a F ton of water and chill on drinks. thats what i did and it seemed to help. and i was so bad i would get stripped searched at airports because my iron was that high that it set off metal detectors
  • lillian67415
    lillian67415

    Posted

    I have just reread my report and noticed what I actually have is, as written:

    "She is heterzygous for one of the less common gene mutations (H56D).

    Does anyone know anything about this gene mutation as there is little on the internet?

    Thank you smile

    • sheryl37154
      sheryl37154 lillian67415

      Posted

      No.  Nothing on google exept to assume a typo has been made.  There is a hydraulic hammer with that number!  confused

      There was no mention of it at last year's haemochromatosis conference.

      I would ask dr to  please explain, or retest.

       

  • lillian67415
    lillian67415

    Posted

    I checked and it is defintely the H63D gene mutation.
    • sheryl37154
      sheryl37154 lillian67415

      Posted

      Ok, that is better.  Apart from your liver problems that need addressing, which I do not know enough about as I escaped having liver problems, then in the absence of any formal request by your dr I suggest you go donate to the Blood Bank every 3 months.  Just don't mention the H word or they will turf you out.  And H63D is not very aggressive.

      They used to think we had a disease, and it is not, it is a metabolic disorder.

      Our blood is not harmful, I used to donate for years before I was diagnosed and they said they loved getting my blood.  There are many people out there who donate and don't know they have HH.  And 'normal' people with less ferritin are able to donate every 3 months.

      Donating blood is healthy for just about all of us.  However, certain medications may make the Blood Bank reject you too.

       

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