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Friday, September 30, 2016
Hemochromatosis - Heterozygous Mutation
Hello! My mom was diagnosed with Hemochromatosis two years ago and I recently had the genetic testing done because my physician saw that my iron level was high. My levels are Iron - 183, TIBC - 294, UIBC - 111, % Transferrin - 62, Transferrin - 210. My genetic testing came back with the result of C282Y: not detected, H63D: Heterozygous. I am a 39 year old female who has had significant joint pain in my hands for many months, fatigue, and a little joint pain in my knees and toes as well. Things I have read state that a carrier does not exhibit symptoms, which is frustrating to me. Can hemochromatosis be the reason for my symptoms, and if so, what should I expect of symptoms worsening or not and for treatment, if any? Thank you so much for any help you can give me.
The one test that you do not list is the ferritin. This is very helpful in detemining whether or not there is actual iron overload in the body. A normal ferritin rules out significant iron overload, regardless of the genetic situation. If ferritin is elevated, further evaluation would be warranted.
Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University