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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, February 10, 2012
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NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Friday, February 10, 2012
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Hemochromatosis |
Diagnosis of hemochromatosis01/26/2009 |
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
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.
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Amy Curry Sturm, MS, CGC Certified Genetic Counselor Medical Genetics Program Division of Human Genetics Department of Internal Medicine College of Medicine The Ohio State University |
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