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Mild Haemochromatosis - is there such a thing

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sarah08070
sarah08070

i have been having various blood tests for 8 months now.  My first ferritin test was over 800 but my iron studies showed saturation levels of less than 50% so they ruled out Haemochromatosis.  I started the self help measures relating to iron absorption and the next step showed 632.  I had a uti infection so there was the possibility that my ferritin was increased due to this.  Had a test a couple of weeks - no infection - ferritin levels now 432.  I have often queried the possibility of iron overload but have been told that ferritin is a protein so it's not iron overload. They must have done every test under the sun now.  All I think I need is venesection - have tried to donate blood but they have refused me as there is no diagnosis.

I am 49 -  menopausal - been on the contraception injection so haven't had a period for 15 years and seemed to have had some of the symptoms for years. Interestingly though my daughter had the genetic test and she has the H63D gene - so surely I must have that gene too- although I believe there is only a small chance of having HH with this gene and she is a carrier.  I have asked wether I can have the genetic test because I have two sisters and 3 nieces and of course probably won't be able to sleep at night until I know.

Not sure what to do next - any help would be appreciated

1 like, 10 replies

10 Replies

  • megan36105
    megan36105 sarah08070

    Posted

    I don't know too much about the science behind haemochromatosis but I can tell you what my experience has been with it.

    When I was diagnosed my level was at about 600 and they never went down over a period of about 6 months. Yours have gone down about 200 in 8 months so that's definitely different than my history with HH.

    Have you been sick other than a UIT in the past yearor two? I remember when I was first researching HH it said that sometimes if you have an illness your iron levels can be temporarily raised. And did your diet change at all over the past couple of years? Obviously people who eat a LOT of red meat, spinich, beets, etc. would have more iron than someone who doesn't. 

    For me - my iron levels have decreased to a normal rate after a few years of intermittent phlebotomies/venesections. I've been told by my specialist that because of my age (25) and because I am having a period every month, that I might not need phlebotomies again until I am menopausal. What I'm wondering is if maybe you're prone to absorbing iron a bit more than the average person, and because you haven't had a period in 15 years, you have just been hoarding the iron you would've shed... goodness, 180 times over the course of that 15 years. Maybe that could be it? Are you still having the injections for contraception?

    What I always say though is that if you're concerned, get a second opinion from another doctor. I know that can sometimes be hard, but do it. It will make you feel better if you get told "no" twice by two different physicians. 

    • megan36105
      megan36105

      Posted

      Oh, I did mean to say as well, everyone has HH in different ways. There are people who hoard a ridiculous amount of iron quickly and there are people who don't. There are people who need regular phlebotomies for their whole lives because they have HH and there are other people, like me, who have HH but rarely need phlebotomies because they absord iron more slowly than the next person with HH. So yes, I suppose there can be "mild" forms of HH. Everyone is different.

      I haven't had a phlebotomy since November 2013 and my iron has only raised 19 points since then. That's far different from other people who if they went 15 months without one their levels would skyrocket.

    • sarah08070
      sarah08070 megan36105

      Posted

      Hi Megan thanks for your reply- it seems invaluable to hear about other people's experiences. - other than the UTI which I was treated twice for - no further sickness - there was a gap of four months between the UTI and my last ferritin test and I am convinced that my diet ie cutting out supplemental Vit C, increasing calcium, not cooking on cast iron cookware eating meat/fish only once a day (yes am a bit of a meat/fish lover) has helped. I am still with my GP and haven't been referred as yet - do you go to a specialist - and what type - although the more I read and see other people's experiences the more I wish my doctor would just prescribe a venesection. 
    • megan36105
      megan36105 sarah08070

      Posted

      Well if it makes you feel better my levels didn't change even when I cut out those kind of things - I too was taking vitamin c supplements (which actually helps with the absorption of iron so that's bad for someone with haemochromatosis to take) and I love my red meat, but even when I mostly cut those things out I was still hovering around 600, so the fact that your levels have dropped definitely do show why your doctor would be hesitant to precribe a venesection without thinking that you have haemochromatosis.

      And once my doctor realized that I have haemochromatosis I was referred to a specialist, that being a hematologist. It took a couple of months to get into them and then it was with them that I began my phlebotomies and they're the ones who play closer attention to my levels while at the same time I continue to see my family doctor for other things and they also keep an eye on my ferritin levels knowing that I have HH.

  • sheryl37154
    sheryl37154 sarah08070

    Posted

    The HFE gene H63D is a less aggressive haemochromatosis gene.  But you have to have two of them to have haemochromatosis, i.e. one from your mother and one from your father.

    If your TS% is less than 50% (actually <45% for females) then, at most you are only a carrier which means you do not have haemochromatosis as one gene does not cause iron absorbtion.  however, there are other health issues that can cause a high ferritin level in the absence of hereditary haemochromatosis and this should be investigated.

    a common one is a fatty liver.  in my experience with other people in the same circumstances in my support group, a couple of ladies decided to take matters into their own hands and stopped eating bad fats (animal meat can be a culprit here - it is not the iron in it), sugars, starches.  sugars and starches convert to fat in the liver too when you are not running marathons to work it off, and a fatty liver is responsible for too much ferritin iron.  their ferritin levels dropped by the hundreds and they found their waist again.  these two ladies could not have venesections or donate blood for various reasons.

    other causes are inflammations, infections, malignancies, alcohol, which should be checked out.

    keep taking vit c supplements, you need the antioxidants.  people with real hh should only take vit c supps perhaps late at night when there is no food in their stomachs.  do not stop eating foods that have high iron in them.  in reality they are not high at all, and the benefits to your health are greater by consuming them.  there are no foods without iron in them; exceptions are cream, certain cream cheeses and scotch whiskey!

    is there anything stopping you, e.g. certain medication, from donating at your blood bank?  do not mention haemochromatosis.  you can do this every three months and it is good for you even if you don't have haemochromatosis and you don't have to have hh to donate blood.  there was a time when they would not take donations from people with hh and if you did really have it, it requires a dr's request.

    did your daughter's gene test reveal that she was homozygous h63d or heterozygous h63d?  if homozygous, then you are entitled to a genetic test.  if only heterozygous, then she inherited that gene from either you or her father.  she should keep this carrier issue in mind (preferably a copy of the gene test with her will or imp docs so that it does not get lost or forgotten about) because if she has children with someone who is homozygous or even just a carrier, one or more of her children could end up with the real deal (homozygous).

    woops, just reread and you say she is a carrier, i.e. one gene only.  the bit about  her children is still relevant.

    good luck with that. for="" females)="" then,="" at="" most="" you="" are="" only="" a="" carrier="" which="" means="" you="" do="" not="" have="" haemochromatosis="" as="" one="" gene="" does="" not="" cause="" iron="" absorbtion.=""  however,="" there="" are="" other="" health="" issues="" that="" can="" cause="" a="" high="" ferritin="" level="" in="" the="" absence="" of="" hereditary="" haemochromatosis="" and="" this="" should="" be="" investigated.="" a="" common="" one="" is="" a="" fatty="" liver.=""  in="" my="" experience="" with="" other="" people="" in="" the="" same="" circumstances="" in="" my="" support="" group,="" a="" couple="" of="" ladies="" decided="" to="" take="" matters="" into="" their="" own="" hands="" and="" stopped="" eating="" bad="" fats="" (animal="" meat="" can="" be="" a="" culprit="" here="" -="" it="" is="" not="" the="" iron="" in="" it),="" sugars,="" starches.=""  sugars="" and="" starches="" convert="" to="" fat="" in="" the="" liver="" too="" when="" you="" are="" not="" running="" marathons="" to="" work="" it="" off,="" and="" a="" fatty="" liver="" is="" responsible="" for="" too="" much="" ferritin="" iron.=""  their="" ferritin="" levels="" dropped="" by="" the="" hundreds="" and="" they="" found="" their="" waist="" again.=""  these="" two="" ladies="" could="" not="" have="" venesections="" or="" donate="" blood="" for="" various="" reasons.="" other="" causes="" are="" inflammations,="" infections,="" malignancies,="" alcohol,="" which="" should="" be="" checked="" out.="" keep="" taking="" vit="" c="" supplements,="" you="" need="" the="" antioxidants.=""  people="" with="" real="" hh="" should="" only="" take="" vit="" c="" supps="" perhaps="" late="" at="" night="" when="" there="" is="" no="" food="" in="" their="" stomachs.=""  do="" not="" stop="" eating="" foods="" that="" have="" high="" iron="" in="" them.=""  in="" reality="" they="" are="" not="" high="" at="" all,="" and="" the="" benefits="" to="" your="" health="" are="" greater="" by="" consuming="" them.=""  there="" are="" no="" foods="" without="" iron="" in="" them;="" exceptions="" are="" cream,="" certain="" cream="" cheeses="" and="" scotch="" whiskey!="" is="" there="" anything="" stopping="" you,="" e.g.="" certain="" medication,="" from="" donating="" at="" your="" blood="" bank?=""  do="" not="" mention="" haemochromatosis.=""  you="" can="" do="" this="" every="" three="" months="" and="" it="" is="" good="" for="" you="" even="" if="" you="" don't="" have="" haemochromatosis="" and="" you="" don't="" have="" to="" have="" hh="" to="" donate="" blood.=""  there="" was="" a="" time="" when="" they="" would="" not="" take="" donations="" from="" people="" with="" hh="" and="" if="" you="" did="" really="" have="" it,="" it="" requires="" a="" dr's="" request.="" did="" your="" daughter's="" gene="" test="" reveal="" that="" she="" was="" homozygous="" h63d="" or="" heterozygous="" h63d?  if="" homozygous,="" then="" you="" are="" entitled="" to="" a="" genetic="" test. ="" if="" only="" heterozygous,="" then="" she="" inherited="" that="" gene="" from="" either="" you="" or="" her="" father.=""  she="" should="" keep="" this="" carrier="" issue="" in="" mind="" (preferably="" a="" copy="" of="" the="" gene="" test="" with="" her="" will="" or="" imp="" docs="" so="" that="" it="" does="" not="" get="" lost="" or="" forgotten="" about)="" because="" if="" she="" has="" children="" with="" someone="" who="" is="" homozygous="" or="" even="" just="" a="" carrier,="" one="" or="" more="" of="" her="" children="" could="" end="" up="" with="" the="" real="" deal="" (homozygous).="" woops,="" just="" reread="" and="" you="" say="" she="" is="" a="" carrier,="" i.e.="" one="" gene="" only.=""  the="" bit="" about=""  her="" children="" is="" still="" relevant.="" good="" luck="" with="">

    a common one is a fatty liver.  in my experience with other people in the same circumstances in my support group, a couple of ladies decided to take matters into their own hands and stopped eating bad fats (animal meat can be a culprit here - it is not the iron in it), sugars, starches.  sugars and starches convert to fat in the liver too when you are not running marathons to work it off, and a fatty liver is responsible for too much ferritin iron.  their ferritin levels dropped by the hundreds and they found their waist again.  these two ladies could not have venesections or donate blood for various reasons.

    other causes are inflammations, infections, malignancies, alcohol, which should be checked out.

    keep taking vit c supplements, you need the antioxidants.  people with real hh should only take vit c supps perhaps late at night when there is no food in their stomachs.  do not stop eating foods that have high iron in them.  in reality they are not high at all, and the benefits to your health are greater by consuming them.  there are no foods without iron in them; exceptions are cream, certain cream cheeses and scotch whiskey!

    is there anything stopping you, e.g. certain medication, from donating at your blood bank?  do not mention haemochromatosis.  you can do this every three months and it is good for you even if you don't have haemochromatosis and you don't have to have hh to donate blood.  there was a time when they would not take donations from people with hh and if you did really have it, it requires a dr's request.

    did your daughter's gene test reveal that she was homozygous h63d or heterozygous h63d?  if homozygous, then you are entitled to a genetic test.  if only heterozygous, then she inherited that gene from either you or her father.  she should keep this carrier issue in mind (preferably a copy of the gene test with her will or imp docs so that it does not get lost or forgotten about) because if she has children with someone who is homozygous or even just a carrier, one or more of her children could end up with the real deal (homozygous).

    woops, just reread and you say she is a carrier, i.e. one gene only.  the bit about  her children is still relevant.

    good luck with that.>

    • sarah08070
      sarah08070 sheryl37154

      Posted

      Thanks Sheryl - I am constantly on diet - so starchy/sugary foods are limited.  I didn't drink a lot but I have halved my alcohol intake and now only have a bottle of wine a week.  Liver function tests are normal.  With them having done so many tests they must have ruled everything else out.  Could I have some sort of iron imbalance without having HH?  I think my only resort now is venesection or giving blood - when I last approached them they refused me because my ferritin levels were too high.  I told them I didn't have HH but it was because I was undiagnosed they weren't happy - they said to me they don't unnecesarrily refuse people with HH - I am not on any medication.  Maybe I will try again and tell them they have dropped through diet ? Intrigued with your comment about being entitled to a genetic test does that mean I am not entitled to a genetic test on the NHS if only heterozygous.  This is such a horrible disease and with it being the most common genetic blood disorder I can't believe that  no one is really aware of it and that there is not more screening done
    • sheryl37154
      sheryl37154 sarah08070

      Posted

      Try and make your sugar/starchy foods (i.e. bread, rice, pasta, potatoes, especially chips which are cooked in bad fats too, root vegetables, corn, grains, etc.) zero for a while to see what happens.  I do have to have toast with my fried egg though and find Bergen soy and linseed does the trick, otherwise a bread that is mostly seed and 'sweepings off the floor' is better.  My liver has not been affected by HH and I am trying to keep it that way.

      And I am sure you are not eating red meat with every meal, which could make your ferritin iron levels go up.

      LFT's, I am told, do not indicate fatty livers and some other liver problems - what's the use of them then?!!  But if you are pudgy around the middle you will have a fatty liver.

      I don't understand why the Blood Bank knew what your ferritin levels were.  Don't tell them.  They go into a tizz if you mention anything about Haemochromatosis and you don't have a dr's request.  Don't they usually just do a haemoglobin test?  Which is to make sure you have adequate red blood cells (therefore not anaemic).  You want to donate blood to help other people is the story.

      If you have a first degree relative proven to have HH (i.e. homozygous), you are entitled a free genetic test.  Or, if you have two Iron Studies results which are higher than the norm, twice.  Might be different where you come from, but that seems to be the usual.  But, do you know what, I have discovered that a private genetic test for HH only costs about $35 in Australia, so check that out where you are.  Up to now, we have been led to believe that it costs a lot, and the gov won't screen everyone (that is likely to have it anyway) because of the cost and provide some preventable medicine instead.

      The next best thing is if drs run an Iron Studies test as a matter of course not just for HH, but because it is a window to a lot of disorders, including discovering fatty liver.

      Your dr sounds knowledgable enough about HH to know that your not having a high saturation % means you don't have HH even though your ferritin iron level is high.  Those not so knowledgable may have ordered a genetic test just based on the ferritin level and that is how some people find out they are carriers, or it is because they have a 1st degree relative with proven HH.

      All the complications I have ended up with have cost me and private health insurance and the gov $thousands for surgeries and treatment, as well as loss of ability to work and hence a disability pension.

      While I am homozygous C282Y, my husband is homozygous H63D and because it is a mild form, after a few venesections, there was no need for him to have any more.  Contrary to this, my C282Y is very aggressive although some people who are homo C282Y can have no problems at all ... I usually say 'YET'.  Our son could not possibly miss out and he is compound heterozygous C282Y/H63D which means he is worse than his father but less than me in terms of aggressiveness.

      Having 2 genes causes the peptide hormone Hepcidin in our liver not to turn on to turn off iron absorption.  One gene (i.e. carriers) does not do this and their Hepcidin does its job.  There is a research team somewhere working on the possibility of finding something to replace or do the job that Hepcidin is supposed to do.  That won't help those of us who already have organ damage from late diagnosed HH.

      I don't know much about it, but some people talk about ferroportin disease which is a different gene which causes a high ferritin level.  Do some research on that and if it sounds right, take it to your dr to at least eliminate it.  There are quite a few blogs on ferroportin disease on this website too.

       

  • GillianA
    GillianA sarah08070

    Posted

    Hi Sarah,

    Ferritin goes up when body iron stores go up, and - as you point out - it also goes up when there is inflammation in the body.

    A simple test for inflammation is the CRP (for C-reactive protein.)  If it's normal, then inflammation wouldn't explain high ferritin.

    One type of hemochromatosis that has high ferritin with normal or low transferrin saturation is ferroportin loss-of-function disease, also called hemochromatosis type 4A.  It is a non-HFE type of hemochromatosis that is inherited as an autosomal dominant; that is, you need to get only one mutated gene from either your mother or your father.  There are also other, rarer, types of non-HFE hemochromatosis.

    There is a recent short paper on ferroportin disease written by a Dr. Pietrangelo that might be helpful to discuss with your doctors - for one thing, it has a nice simple flow chart on how to go about making a diagnosis for someone with unexplained high ferritin, and for another thing, it's short, only 3 pages.  I'm putting in the link to it in case you want to have a look at it - http://onlinelibrary.wiley.com/doi/10.1002/cld.340/pdf .

    And because having iron overload doesn't protect you against having inflammation, you can have both iron overload *and* inflammation.  In this case, if you find and fix the cause of inflammation, then you would expect your CRP to go back to normal and your ferritin to drop.  If your ferritin dropped but not all the way to normal so it was still high in the absence of inflammation, then I think it makes sense to wonder about iron overload.

    I hope some of this is helpful -

    • sheryl37154
      sheryl37154 GillianA

      Posted

      Hi Gillian, so glad you stepped in with your info regarding ferroportin disease - it was very timely.  I must take a copy of your link myself.
    • sarah08070
      sarah08070 GillianA

      Posted

      Thanks Gillian - that has been a great help and I will certainly be discussing it with him - I did start looking and it all seemed so complicated and so little out there  - they have been checking my crp each time they check my ferritin and on all three occasions, even when I had my UTI has been normal 
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