Haemochromatosis :: C282Y Heterozygote - Carrier Or Suffering?
Aug 3, 2015
I believe I have haemochromatosis, but my genetic test reflected that I was only C282Y heterozygote and my doctor has advised that I can only be a carrier. Is this true? Does anyone know of anyone else who is C282Y heterozygote and suffering with the disease?
I have been suffering with severe joint pains (particularly in my fingers) and general fatigue.
My initial blood tests ruled out rheumatoid arthritis and showed the following levels:
Ferritin: 2672 ng/ml
Transferrin: 139 mg/dL
Transferrin saturation: 96%
I was prescribed 4 weekly phlebotomy sessions after which my results improved to:
Ferritin: 2177 ng/ml
Transferrin: 161 mg/dL
Transferrin saturation: 82%
However I also then showed signs of anemia with my hemoglobin levels reducing from 14.8 to 12.9 g/dL.
The doctor has now decided it can't be Haemochromatosis because my levels haven't reduced sufficiently after 4 sessions and because of the anemia reading.
I am Irish and know this is prevalent in the celtic race.
I am now to be tested for Still's disease, even though the only symptom I have is joint pain. I could be proven completely wrong, but I feel this is complete waste of time and is delaying my correct treatment.
My doctor has admitted he has little experience with haemochromatosis so if there is anyone else out there with similar readings and the same genetic result I would love to hear more about your diagnosis.
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