Hi, I am just looking for some help please. Three of my dads siblings have haemachromatosis. Since last year i have been suffering with fatigue and severe joint pain in my hands, to the extent that i cant bend my fingers sometimes and grabbing or opening or lifting things is getting harder. I went to my doctor about this and he was nearly sure i didnt have heamachromatosis, as i was too young and i am a female age 37. As he predicted my ferritin levels were normal, and when i asked about genetic testing he asked if my parents were carriers which i didnt know. Genetic testing was refused. I had previously done a DNA test, and i was able to upgrade to a health report. The results say the following; "Two copies of pathogenic variant C282Y detected". Before i go back to the doctor with this information, can anyone give me anymore information on this? Thanks Ciara
Hi there, I really hope you have been back to the doctors and got some help by now but two copies of c282y would mean you have Haemochromatosis but perhaps not loading iron.
I understand your pain with the fingers! Did your doctor test CRP? I ask because rheumatoid arthritis has links with haemochromatosis and affects the joints from what i’ve read.