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H63D gene



I`m 27 male, I have been diagnosed with hemochromatosis H63D gene 2 mutations I have random phletbotomys done my, hglb stays around 15.9 hemt 45, I have been having alot of other type of problems since being diagnosed. I have constant joint pain in my fingers, my shoulders hurt all the time, I never have any energy I just wanna sleep all the time, I have been having alot of GI problems last August I had a colonoscopy which the doctor said everything was inflammed and didn`t see any polyps or anything like that he took biopsies and all the results from them were good so he said it was just an infection of some kind and put me on cipro and flagyl, I have constant gas, belching, watery mucs bowel movements, and just last week a year later and going to him and trying different meds he did and endoscopy and said everything was inflammed again and put me back on flagyl it just makes no since to me I feel awful I just have no energy I`m looking for help please I have a 3yr old son and a child on the way I`m getting really frustrated because with my age and not losing weight my doctor says i`m fine but this has been going on for over a year now. Also a ct scan revealed several calcified granulomas in the spleen and one calcifed granuloma to the right lower lobe of my lung and sever punctuate calcifications in the illiac bone and a large density probably being a bone island, could any of this be from having hemochromatosis any information would be a blessing thank you for your time and god bless you


The one set of symptoms that you might be able to attribute to the hemochromatosis is hand pain.  The important thing here is not your hemoglobin or hematocrit but that your ferritin needs to stay down.  Your doctor needs to be treating it with phlebotomies to keep the ferritin around 50 ng/dl.

If your ferritin runs much higher than that, yes, you could get more symptoms from it.

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University