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Hemochromatosis

Not sure whether treatment is indicated

05/29/2007

Question:

A routine blood test indicated that I have iron overload. I am 44 years old and although premenopausal, had an endometrial ablation about 4 years ago so no longer have periods. Serum ferritin is within range [65], iron is 35%, and transferrin saturation saturation is 65%. The iron studies were repeated after 3 months with similar findings.I have had the gene test for haemochromatosis and it shows that I am heterozygous for the C282Y mutation and DO NOT have the H63D mutation.I am unsure as to whether treatment is warranted in this case as I only carry one defective gene. My liver function test was normal. My fasting BGL was 3.4. Some advice would be very welcome as from everything I have read 2 genes are usually present for haemochromatosis symptoms to occur. I work in Aged Care and a large part of my job involves crushing medications. I am concerned that as many of the residents are on various forms of iron tablets that by crushing them and inhaling the powder I am placing my health at risk. Could this practice be contributing to the increased iron levels?

Answer:

The iron contact cannot affect your iron levels. I am not sure of the significance of the saturation in face of the single gene mutation. I would suggest serial studies of ferritin and iron saturation prior to coming to any conclusions.

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Response by:

Eric H Kraut, MD Eric H Kraut, MD
Professor of Hematology
College of Medicine
The Ohio State University