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Hemochromatosis

Hemochromatosis - Heterozygous Mutation

07/16/2010

Question:

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.

Answer:

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.

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Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University