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H63D positive- C282Y negative



My husband has many of the classic signs/symptoms of HH although his C282Y mutation was negative. His serum ferritin is 750+ although his iron,tibc & saturation are all normal. One of his liver enzymes is 250+ and testostorone is at 160. His heart has an enlarged chamber and he has become diabetic. Is it possible that he has Hemochromatosis although most of blood tests were normal, or is it impossible?


If the information is accurate, the likelihood is that genetic hemochromatosis is not the cause of all your husband's symptoms. There are a few rare forms of hemochromatosis for which genetic testing is not yet available, and it’s certainly possible that he might have one of these forms.

The only other way to confirm whether or not iron is directly responsible for some of his problems would be to evaluate iron levels by means of a liver biopsy. This is somewhat invasive and would not be undertaken casually; however, he does have evidence of some liver dysfunction with the abnormal liver enzymes, and this certainly might be a consideration. It might be something that he could consider discussing with his physician to see if this is an appropriate diagnostic maneuver to undertake.

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

Mark   Wurster, MD Mark Wurster, MD
Former Clinical Assistant Professor of Internal Medicine
College of Medicine
The Ohio State University