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Carrier with symtoms.

Posted , 6 users are following.

Charlieangel
Charlieangel

Is there anybody out there that is a carrier with symptoms,my son is a carrier he found out after blood tests revealed high levels of iron ,his doctor then sent him foe a genetics test which revealed him to have one copy of the gene C282Y, he needs to start blood letting to get rid of iron,also I have now been tested and have the same gene,I have been going to my gp for a year with multiple joint pain ,especially in my hips I have seen specialist who have diagnosed fibromyalgia I also have ectopic heart beat ,hypertension, red palms and had my menopause at 42 both me and my son are suffering everyday with chronic pain he is 27 I am 49.my doctors not even checked my iron levels etc says I'm just a carrier.its frustrating anyone any advice appreciated.

1 like, 21 replies

21 Replies

  • maureen99963
    maureen99963 Charlieangel

    Posted

    I am a carrier of the H63d gene and I overload and get regular phlebotomies. I have a history of Fibromyalgia and degeneratice joint disease and had a hip replaced last year.  My husband has the same gene too but, does not overload. Our daughter inherited both genes but, our son did not. Our daughte oveloads half of each month and during preganancy and menopause, she will need to watch for overload.  Get yourself to a Hematologist and see what he says about your levels.

     

  • sheryl37154
    sheryl37154 Charlieangel

    Posted

    Put it back on your dr to find the reason why you have these problems.  An x-ray will show if your joint and hip problems are caused by haemochromatosis, even if it shows it does not, then your issues need to be treated anyway.

    Try and get an iron studies test from someone else, but it is generally believed that even if you have a high ferritin level, but a genetic test shows you are heterozygous, that you do not have genetic haemochromatosis.  A TS%  >45% is also indicative of genetic haemochromatosis.

    In the meantime, sign up to donate blood every 3 months or so to see if that relieves your problems.  However, even if you were homozygous, venesections will not reduce your joint problems.  Once the damage is done in the joints, it is done.

    Fatty liver can also cause high ferritin levels.  So far, only a scan or mri can reveal that problem.  If so, eliminate sugars and starches from your diet to reduce a fatty liver.

     

    • maureen99963
      maureen99963 sheryl37154

      Posted

      The joint problems cause by high iron do not looks any different than arthritis but, the damage is caused by pyrophosphate crystals, which is different.   My surgeon just assumed I had arthritis but, I don't really have much arthritis. My problems are elevated iron and hypermobility.

    • Charlieangel
      Charlieangel sheryl37154

      Posted

      Hi thanks iv asked for an mri scan on my hips and been told no point because doesnt show much up .cant even get them to do iron levels test but my sons doctors doing everything for him been refered to several specialist with overload iron problems i am glad for him he is only young but frustrated i m not getting anywhere i am going to go back to doctors and put it to her i need tests and see what happens .
  • wendy00586
    wendy00586 Charlieangel

    Posted

    I have both the sets of zones so suppose I have full blown haemo! My feet wrists and neck pains are awful. I'm 46 and walk like a 90 year old in the morning and often have sleepless nights due to neck and shoulder pain. Have my appt with the hepatogist in Sept. Hope it will ease a bit once I start venesection ??

    • Charlieangel
      Charlieangel wendy00586

      Posted

      Hope blood letting helps but am told it only helps with fatigue and not joint pain becsuse that is due to the storage of the iron that has all ready done the damage and thats ireversable and cant be undone .but on a posotive blood letting prevents further damage. Good luck and i share your pain 49 and rely on grip rails to get out of bed its no joke hey x
  • jwrhn1951
    jwrhn1951 Charlieangel

    Posted

    I am H63D homozygous. In my case the joint swelling and stiffness pretty much went away after about 6 months if weekly blood draws, there is still some minor pain but not enough to bother me much.

    Everyone is  so different in the way hemochromatosis affects them. Unfortunately those in the medical commnunity just go by what they learned in medical school and they have seen so few cases that they just assume the symptoms are what they have been taught.

    It seems to me if you are newly diagnosed gat the iron out of you as fast as possible and then see how it effects you individually. 

     

    • maureen99963
      maureen99963 jwrhn1951

      Posted

      Joints do not improve after phlebotomy.  Excess iron created pyrophosphate crystals and they, in turn, destroy joints. My hip needed to be replaced and even after three years of phlebotomies and keeping my iron undre 50, my right hip is now showing signs of needing replacement, as well.  What I am most concerned about it the iron that been taken up by my brain. I am not sure it can be removed either, but, not much is known about that and it needs to be reserched further.
    • jwrhn1951
      jwrhn1951 maureen99963

      Posted

      You are right in most cases joints do not improve but in my case they did possibly because I am a H63D,

      I share your concern with iron in the brain. In my case it has been identified with a specilized MRI, my report showed diffufe generalized atrophy with microvascular disease related to iron deposition. They expect I will have full blown vascular dementia within 10 years.

      Thats why encourage anyone newly diagnosed the get the iron out as fast as possible,,

    • maureen99963
      maureen99963 jwrhn1951

      Posted

      I have the H6ed variant too. Where did you hear there was a difference in experience depending on your HH mutation?
    • jwrhn1951
      jwrhn1951 maureen99963

      Posted

      I'm H63D homozygous, folks who are carriers and only have one H63d gene might also have one of the 20+ other genes linked to hemochromatosis. They commonly only test for the CY, HD, and SC variants. I get threated through the VA at a major academic medical center. Because my case was unusual both in the amount of overloading and my response to the phlebotomy's they sequenced me for all known genetic defects. 

      The way it was explained to me is that they think it is a combination of genes that contribute to a persons succiptabulity to iron over load in particular parts of the body. They are not far enough along be able to identify the particular gene but they think thats why phlobotmy worked in my case and dosent work in others

    • maureen99963
      maureen99963 jwrhn1951

      Posted

      My Hematologist thinks I have another unknown HH gene defect, too. But, I have contributing factors to my joint destruction, too. I have Ehlers-Dalos so my joints are all hypermobile. That and the excess iron, add to the injury.  My father had HH and his joints were fairly unscathed.  So, I may have gotten the hypemobility from my mother.  I seem to have inherited all the defective genes from both.

       

    • jwrhn1951
      jwrhn1951 maureen99963

      Posted

      God Bless 

      Hang in there. Besides getting someone who is newly diagnosed getting thier iron down as soon as possible I think its also important that they volunteer for genitic studies if they are available. 

      Hemochromatosis is a complex gene related disese, it seems to me the more people that have the genes volunteer to be in some of the big studies out there the easier it will be in the future to identify those at most at risk.

       

    • maureen99963
      maureen99963 jwrhn1951

      Posted

      I tried to donate blood to the Hemochromatosis Blood Bank at NIH but, they make it challenging to do so.  They wanted my Hematologist to send them all my records and gene test which they are slow to do. So, I donate to a local blood bank...hate to waste O Neg blood!  I would like to participate in a study but haven't found one, yet. I live near Wash. DC if anyone knows of one, let me know.

       

    • Charlieangel
      Charlieangel maureen99963

      Posted

      I cant donate blood because previous treatment for cervical cancer they wont have it. Its a long haul trying to get sorted isnt it . Fighting a battle that no one wants to join in. Hopefully we will get sorted and live the life we should be living .heres hoping i live in warrington cheshire x
    • Charlieangel
      Charlieangel jwrhn1951

      Posted

      Funny you say that i have been in touch with regards this i am waiting a follow up call they have said they would like to do some further testing on me and my son .they said there are new faulty genes that have been identified and maybe one of those we may have and thats why we have symptoms i will update when i know more .its frustrating being a carrier .doctors fob it off.i am doing lots of research and i have joined the hemochromotois society i will do what i can especially to help my son he is only 28 and deserves better we all do

    • Charlieangel
      Charlieangel maureen99963

      Posted

      You havnt been dealt a good hand hey bless you u havnt even heard of that untill now but then i hadnt heard of hemochromotosis untill a few months back. We need much more research into this and more awarness .x
    • Charlieangel
      Charlieangel jwrhn1951

      Posted

      Wow thats scary that has really made me think and i going to act now and get my doctor to do more .sorry to hear though thoughts are with you and everyone suffering .
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