Haemochromatosis advice, please

Posted , 3 users are following.

Hello,

My brother was diagnosed 10 years ago in the US.  We'd never heard of it and half-heartedly went to the GP and had blood tests which came back as normal.

Over the past couple of years, I have had various problems including fatigue, swollen finger joints, aching joints, stomach problems, early menopause, chest pains.  My brother was convinced that my symptoms were linked to haemochromatosis & told me to go back to the doctor and ask for the DNA test.  I was given the usual blood tests as well as a DNA test this time.  The ordinary bloods results came back first and were negative so the doctor assumed all was normal.  Then I had a call to go in for a chat as the DNA test shows half a faulty gene on chromosome 6.  Apparently, I won't develop full blown HH because it's only half a faulty gene so I'm a carrier.  However, apart from the normal haemoglobin levels and normal bloods, I am sure that I have many symptoms of the condition.  If I am only a carrier, why am I showing these symptoms?  Has anyone else had a similar diagnosis?  I'm concerned that doctors in this country really don't have much knowledge about the condition and don't seem to want to investigate it.

I'd be grateful for any advice.  Thank you :-)

1 like, 13 replies

13 Replies

  • Posted

    haircrazydaisy, I have also read your response in another post.  It might be your choice of words or interpretation of what your dr has told you, or your dr doesn't know what he is talking about.

    First the proper test prior to the genetic test is an Iron Studies.  It includes Serum Iron, Ferritin Iron, Transferrin Saturation %, and TIBC.  It is not haemoglobin which is your red blood count which tells whether you are anaemic or not.  This is not an indication of HH nor is just an iron test.  You can be anaemic and still have the genes for HH.  Anaemia or low ferritin iron level might just be associated with menstruation, or bleeding from the gut, celiac, or helicobacter pylori, or ?.  At the present I think celiac can only be surely diagnosed by a biopsy.

    Ferritin iron indicates how much iron is stored in your organs, and transferrin saturation % is how much is available to be stored.  Serum Iron is how much iron is circulating in your veins.  TIBC lowers when your ferritin iron is high and rises when it is not.  Ferritin iron and TS% is the most important markers. TS >45 usually indicates HH.  However, a genetic test confirms it for sure and lets you know exactly what HH gene/s your have inherited.

    You do not inherit half a gene, it is a whole gene either from your mother or your father.  If one or other are carriers there is a good chance of inheriting that one gene.  This is very important to know because it can be passed on to one of your children and they could marry another carrier and end up with a child with the two HH genes.

    Two genes are required to have hereditary haemochromotosis, ie. the full blown disorder.  As your brother has two genes, then both your parents are carriers and he was 'lucky' to get that gene from each of your parents.  However, one might have had full haemochromotosis (i.e. 2 genes) too.  Think about the health of your parents and which one might have had these symptoms and health complications.

    Even if you have only inherited one gene, ask for a copy of your genetic test so that you have it in writing and can identify which gene it is. I.e., C262Y, or H63D.  Which ones does your brother have?

    As to your symptoms sounding similar, you might have a fatty liver which causes high ferritin iron levels similar to HH.  HH can cause fatty liver, and conversely, fatty liver can cause high ferritin iron without having HH.

    Fatty liver does not show up in a LFT - only a scan.  However, I have had experience with people in the same position as you who have cut out all sugars, and starches which have cured their fatty liver, and reduced their ferritin iron level.  If you have a pudgy middle, you are quite likely to have fatty liver.  You will soon rediscover your waist.  (I run a support group for people with HH and these problems - I do not have medical quals, only lots of experience.) 

    I have two C282Y genes, and eventually after years of discomfort, I find that I cannot tolerate sugars and starches (that includes breads, potatoes - best to google what foods contain starch which is really sugar).  Eat good oils, not bad fats.

    Now that I know the symptoms of HH, I believe my father had the two genes, my mother is a carrier and my siblings are carriers of one gene.  I definitely inherited one of my fathers' HH genes, and my mother's carrier gene.  My siblings would have inherited one of my father's genes, and the 'blank' one from our mother.

    So out of all this, I would suggest you ask your dr for a copy of your genetic test, and for a Iron Studies test to find out what your ferritin iron level is, always ask for a copy of your blood tests (and scan if you have one), and start eliminating sugars and starches.

    As habits of eating bread, pasta, rice and potatoes were long grained from childhood, I started eliminating them from dinner, then from arvo tea (like cakes, biscuits), then from lunch (so hard as used to having a sandwich), morning tea and finally gave up my much loved porridge and now have a protein brekky.

    E.g. fried egg on turkey, on avocado and, after finding eating fried egg without toast was so icky, I found the bread with the highest protein and least flour (burgen soy and linseed bread).  Anything full of seeds and nuts and 'sweepings off the floor' is better than high flour content.  Gluten free is still starch.

    Try donating blood every 3 months.  It is good for you and the person it is going to.  Ask for an Iron Studies test every 6 months to see how you are going in the ferritin iron department.  If it was high, and is now reducing, you know you are on the right track.

    I hope that all helps you understand.  Sometimes genetic tests fail, and if your Iron Studies results indicate otherwise, maybe a retest is warranted.

     

    • Posted

      Thank you so much for all of this information.  I clearly need to write some notes down from what you've written and get myself back to the doctor's.  

      Funnily enough, I did the Candida diet for 12 weeks this time last year and I really felt so much better - as you say, no starches or sugars and good fats.   So hard to follow it for more than the 12 week period but I've continued to eat less carbohydrate.  I think my big mistake was to start eating ryvita as I can't eat bread and haven't had it for many years, now.   

      I know that my Vitamin D levels are good because I had bone scans and blood tests recently - my mum suffers badly from osteoporosis.  My B12 levels are good, too, but I do take a yeast-free Vitamin B supplement.

      So, the doctor focussing on my haemoglobin levels really showed his lack of any knowledge in this area?  It was 136, apparently and he said it can fluctuate but when I had the initial blood test when my brother was first diagnosed, it was also 136 so that would lead them to think that I didn't have HH.  Clearly misinformation.  Thank you for explaining this to me - worrying that doctors don't understand this!

      Many thanks :-)

       

  • Posted

    Also ask for a Vit D test.  Deficiency in vit D can cause a lot of problems and sometimes tablets don't help.  Vit D3 drops are most effective.  I take it your Vit B12 was good.
  • Posted

    Hi haircrazydaisy

    You definitely need to get hold of the results of the blood test to check what your ferritin is and your transferrin saturation as Sheryl states.

    My case was similar to yours.  My symptoms were non specific at the time and a lot of the symptoms I had were put down to the menopause.  I was told that I had inherited one copy of the gene for classic HH and would not go on to develop full blown haemochromatosis.  My ferritin was still going up though and I was referred to another consultant who specialises in the condition. 

    He took loads of blood and tested for everything and sent a sample off to be genetically tested.  I am C282Y negative and H63D heterozygote (results from the normal blood test) and have a heterozygous mutation in the FPN gene (from the genetic testing).  This confirmed that I have Ferroportin disease.  With this form of haemochromatosis you only need to inherit one gene from one parent to develop the disorder and not one gene from both parents.

    Let us know how you get on.

    Marie

     

    • Posted

      My goodness, Marie, thank you for that information.  I'm going to write down everything that you and Sheryl have said and go back to my GP.  Are you in the UK?  I know that my brother finds it easier to get details of blood tests in the States - he's given print-outs as a matter of course.  I know my GP won't be keen to give me this information.  I'll pluck up the courage and ask.

      Thank you so much.  I'll let you know how I get on :-)

       

    • Posted

      Hi haircrazydaisy

      Yes, I am in the UK.  I think it depends upon the individual medical professional, but when I ask for the printout I generally get it.  If you have a blood test for Full Blood Count, there are a whole load of readings on there.

      Good luck with getting the information.

      Marie

    • Posted

      Hi Marie,

      Thank you, again.  May I ask if the consultant you saw who specialised in the condition was with the NHS or did you have to go privately?

      H :-)

    • Posted

      Hi haircrazydaisy

      He is NHS.  I was referred to him because they did not know why I was still loading iron when I didn't have the classic HH markers.  We had exhausted all that he could do for me and this led to the referral.  The specialist practices in London at University College Hospital London (UCLH) and once I was diagnosed I transferred my treatment program to my local hospital due to the cost of getting to London every fortnight.  Up until very recently I was going to London for  my clinic sessions on a quarterly basis.  Now that my ferritin is down I am going on a six monthly basis.

      I am not sure if I can name him on this site, but you can do a search for the haematology dept to see the consultants.

      Best wishes

      Marie

       

    • Posted

      Hi Marie, you are very helpful for those with ferroportin disease.  I suggest you email 'hair' privately (click on the envelope) to give her the name of the specialist.  These specialists are so rare, and all specialists are not equal in their knowledge or interest.

       

    • Posted

      Hi  Sheryl

      I had forgotten that I could private message and have now done so to haircrazydaisy.

      Thanks for the suggestion.

      Marie

    • Posted

      Thank you so much to Sheryl and Marie.  I'm off to the hospital today so will ask if they can give me a print out of my blood tests and DNA.  I also have to make an appointment with my GP as my biopsy results are back and they need to discuss these with me.  I'll keep you informed.  

      I noticed in another of your posts on this subject that there is something called Hp.  I wonder if you'd mind telling me what that is?  

      Many thanks,

      H

    • Posted

      Hp - Helicobacter pylori.  It thrives on iron so we are prone to it.  It is a bacteria that gets into the stomach and causes ulcers.  I have also discovered that it can cause a range of allergies from food intolerances to constant sniffles, and phlegm problems.

      It can be tested via a breath test (not always reliable) or an endoscope.  Treatment is massive dose of antibiotics.  I find a daily dose of kefir suppresses it.  But I have to go off the kefir for 13 days before testing and I don't want to get the ulcer type pains during that time.  I have had a few doses of Hp.  I was finally diagnosed with 6 duodenal ulcers in my early twenties and this was before they discovered this bacteria which causes it.

      Hb - Haemoglobin (red blood cell count - anaemic or not).

      Did both in case you really meant Hb!!!!

       

    • Posted

      Ah, yes, of course.  I've just had biopsy results to say I don't have Helicobacter pylori (had an endoscopy almost 2 weeks ago).  Yes, it was Hp that I meant but useful to know what Hb is too.

      Thanks.

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