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Carrier of hemochromatosis?



My 21 year old son has had the following symptoms, joint pain, fatigue, lack of energy, loss of hair and weakness. His blood test were iron 277 ug/dl, TIBC 279 ug/dl, Transferrin Saturation 99%, Ferritin 111.6 ng/ml. He was tested for Hemochromatosis and he has one copy of the c282y mutation. The H63D and s65c mutation were not detected. The doctors have told him that none of his symptoms could be caused by being a carrier. Also have told him that he will just have to live with the pain. A few questions. Can a carrier have the symptoms? What type of doctor would you suggest he see? Has seen family doctor, orthopedic and a rheumatologist.


Although some carriers (heterozygotes) tend to have elevated concentrations of serum iron and ferritin and transferrin-saturation values that exceed normal, they do not develop complications of iron overload. A small number of individuals with hereditary hemochromatosis may have a mutation in the HFE gene other than the three mutations mentioned in your question, or may have mutations in other iron-related genes. Testing to identify other mutations associated with HFE-HHC is available in a limited number of clinical and research laboratories, according to the www.geneclinics.org website.

At this point, I would recommend that your son see a geneticist and/or genetic counselor who may be able to help coordinate additional genetic testing, if warranted. A consultation with a hematologist may also be helpful.

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Response by:

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