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.
Thank you for your reply. I believe cc and ga to be genotypes, but I have no clue as to what they mean, and I haven't been able to look it up online either.
Along with the above lines there followed a short text message:
"genotype not associated with Hemochromatosis - status of children depending of spouse status."
It's the last part that concerns me. Is the test completely negative or am I a carrier? I just can't figure it out.
Regards Jrgen
Thank you for your reply Leigh444!
I got my oldest daughter tested... Her status:
DNA-HFE-gen (HIS63ASP) : cg
DNA-HFE-gen (CYS282TYR) : ga
The written reply: "This genotype is found in 3% of HFE patients, it's recommended to follow the patients status for iron, transferrin and ferritin"
My guess is that I am Heterozygous on C282Y - and my daughter is Compound Heterozygous C282Y / H63D
The reason why I'm so interested is because both my father and my wife has died in an early age with symptoms I now recognize from Hemochromatosis. (And I care about my daughters :-))
Thoughts anyone ??
Regards Jrgen
(CYS282TYR) or C282Y
There are 20+ mutations for HFE gene, 20+ mutations for HFE2 gene,
HAMP gene 8 mutations, SLC40A1 gene15 mutations, TFR2 gene 9 mutations.. All cause Hemochromatosis..
Great reference page:http://ghr.nlm.nih.gov/condition=hemochromatosis
Hope this helps..
Hugs
Cheryl