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Hemochromatosis

Hemochromatosis

05/02/2008

Question:

I attended the IDI conference on April 19th and the additional information I received about HHC was really helpful. I had the C282Y test and I tested positive with 2 copies. My half-brother and sisters want to be to be tested (we have the same mother). Other than the C282Y should they also be tested for the H63D and S65C or is the blood tested for all 3?

Answer:

Typically, when a genetic test for hemochromatosis is ordered, most labs test for both the C282Y and H63D mutations. S65C is not tested for as frequently. Since you inherited one of your C282Y mutations from your mother, your half-siblings are at 50/50 risk for this mutation from your mother. Without knowing the exact mutation status of your mother and your half-siblings' father, I do not know the exact risk they are at (i.e. your mother may have two mutations, and their father may be a carrier or have two mutations). Therefore, I would recommend that they at least have testing for both the C282Y and H63D mutations.

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Response by:

Amy Curry Sturm, MS, CGC Amy Curry Sturm, MS, CGC
Clinical Assistant Professor of Human Genetics
College of Medicine
The Ohio State University