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Hemochromatosis

H63D Gene

07/29/2010

Question:

i HAVE BEEN DIAGNOSED WITH HAVING THE H63D GENE AND MY FERRITIN LEVELS ARE HIGH WHAT DOES THIS MEAN PLEASE.

Answer:

It sounds like you have one copy of the H63D gene mutation in the HFE gene. It would be important to know whether or not you tested positive for any other genetic markers for hemochromatosis. Since your ferritin level is increased, and it sounds like you at least have one mutation associated with hemochromatosis, it would be a good idea to see a health care provider with expertise in hemochromatosis who can help determine whether further genetic testing should be done and whether or not you should be treated for your ferritin level.
 
I would recommend asking your primary doctor about this, and possibly about getting a referral to a genetics specialist or other type of doctor with expertise in this condition.  

For more information:

Go to the Hemochromatosis health topic, where you can:

Response by:

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