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Hemochromatosis

Diagnosis of hemochromatosis

01/26/2009

Question:

Blood tests results were Ferritin 950ng/l and Tsat`s 91.7% Genetic tests C282Y/H63D. Phlebotomies tolerated on average bi-weekly. My question is this Herediary Hemochromatosis?

Thanks

Answer:

Yes, this is hereditary hemochromatosis. Your genotype of C282Y/H63D is consistent with a predisposition to iron overload, also known as hemochromatosis. And, the fact that your ferritin level is also high means that you do have iron overload.

It would be beneficial for family members to be screened with both genetic testing and an iron panel to determine whether they are also at risk and/or currently have iron overload.

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Amy Curry Sturm, MS, LGC Amy Curry Sturm, MS, LGC
Associate Professor of Human Genetics
College of Medicine
The Ohio State University