Hemochromatosis Support Group

Hemochromatosis is a hereditary disease characterized by improper processing by the body of dietary iron which causes iron to accumulate in a number of body tissues, eventually causing organ dysfunction. It is the main iron overload disorder. Hemochromatosis is notorious for having symptoms that are often initially misattributed to other diseases.

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mkarns24 03/22/2017

I was diagnosed in 2011 with a gene test of C282Y and H63D. 3 docs have confirmed over the years I am an HH pt. Ferritin level at diagnosis was over 2100. Phleb'd for 10 straight weeks. My new liver doc is now telling me I'm just a carrier. I have all the symptoms. I'm 38. I don't get it. This doc comes from the Mayo Clinic. My ferritin is almost 500, ast and alt are elevated yet he won't order a phleb. How can he say I'm just a carrier when I'm a heterozygote? Any help is appreciated.

MissSophie 03/23/2017

Get another doctor. Mayo Clinic has good doctors & not so good doctors just like everywhere else. If he was so great at the Mayo Clinic he would still be there. Just my opinion. Maybe show him all the info on HH and inform him you are a heter & ask him why he said you are just a carrier. Maybe he just doesn't know that much about HH. Don't forget to ask how many HH patients he has treated.

Pudding80 03/23/2017

mkarns24 ,

I am concerned about the advice you appear to have been given.

There are a small number of people with just one copy of the HH gene who have HH symptoms so it is not beyond the realms of possibility that you may have symptoms of HH.

Your ferritin is high and needs to be reduced so your organs are not affected by too much iron.

I suggest you go to a different clinic as a matter of urgency.

Christine

mkarns24 03/24/2017

Thanks for the advise. I used to work in this liver clinic I go to. In fact, the doc who helped develop the cure for Hep C worked there. #3 liver clinic in the country. There is no way I am just a carrier with a ferritin level over 2100 6 yrs ago. I don't know who else to go to. This guy is my 4th doc. I work in an ED so maybe get a recommendation from the head physician. Appreciate the help, will keep you posted. Seems FUBAR to me.

mkarns24 03/28/2017

I received the report from my recent blood work. It states I am a heterozygote for c282y and h63d but does not support a diagnosis for HH. It also states my symptoms are not due to HH. That I am a carrier. This is ridiculous. Doc ordered a gene test without my approval. Done by the VA lab here. Doc didn't listen when I said my ferritin was over 2100 when I was diagnosed in 2011. I'm not a Vet so not sure my blood was sent there for testing. Sorry all, just venting.

mkarns24 04/13/2017

Just got my full med records. It says I might be just a carrier. If I have both genes, why would I have all the symptoms? I have extreme fatigue, I have joint pain, I have ed, I can't function at times, my enzymes r way up, ferritin way up..

birkita 05/10/2017

I only have one of the common genes but was diagnosed with HH since I had a lot of symptoms as well. My doctor also said to remember they only test for the 2 most common genes and not all the others that can cause HH. My current doctor agreed with the diagnosis based on the same evidence. Also if a phleb helps the symptoms then it can be classed as medically necessary if your doctor agrees.

Brinski 05/18/2017

I really think you need to see another Doctor. C282y and heterozygote for H63D. My levels were 2003 when diagnosed. This was my genetic test as well. You need to start to have your blood taken before the Iron starts to attack your organs. A Haematologist is what you need. If you tested 2100 6 years ago, then what are your Iron levels now?????? Has your skin change colour? I would be printing off any info about Hemo regarding C282Y and H63D and showing the Doctor.

Stevewmarsh 05/29/2017

Hi like it has been suggested above you been to see another doctor a haematologist if possible as from your symptoms and your ferreting levels it looks like you have HH and need to be de-ironed before you have issues with your organs.
2100 6 years ago is a very high level and will start to damage your organs.
My level was 700 at diagnosis and I have painful joints and skin bronzing.

Go find another doctor

Take care
Regards

Steve

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