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Thursday, December 12, 2013
Diagnosis of hemochromatosis
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?
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.
Amy Curry Sturm, MS, CGC
Clinical Assistant Professor of Human Genetics
College of Medicine
The Ohio State University