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.
Kinda long. Ive always complained about feeling weak, fatigue, brain fog, migraines and pain especially on the joints of my hands, knees and shins along with abdominal pain and digestive issues. Labs were odrdered and my ferritin came back abnormal and so did some ANA test, the doctor said I was fine, but I requested he order a genetic test for hemochromatosis since a lot of what I feel related to that, and to his surprise it was positive for gene mutation he referred me to hematology the dr there said it was only one gene that was mutated not two as is most common in HH but that it was still possible to develop iron overload, my liver also is larger than normal and i was referred to GI who says its a small percentage of people that have my mutation and have issues cuz everyone else doesnt, she doesnt seem to believe i ahoiuld have symptoms but ive had them before being diagnosed and proven with the genetic test. Does any one else here only have one gene mutation and experiencing symptoms? What are your doctors doing?
I don't have heterozygous HH like you do - mine is homozygous; however people with heterozygous HH who have HH symptoms have posted on this site.
The registrar to my haematology consultant is doing his research on people who have heterozygous HH so it is known that there can be problems.
Thanks for your reply. Yes I suppose there's contradicting information I'm receiving, my hemotologist says yes I can have symptoms and my liver and ferritin tests do show something going on, but I guess my GI is totally dismissing what I say and feel, it's frustrating.