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Hemochromatosis

Hereditary hemochromatosis

03/19/2009

Question:

Your genetic testing was positive for two mutations. (C282Y and H63D). This result may be associated with hereditary hemochromatosis (HH), but since only a very small minority of individual with this result develop clinical iron overload, it does not necessarily confer with the clnical diagnosis of HH. The labs are the diagnosis.

FE 46 01/09/2009 TIBC 128 01/09/2009 FE SAT 36 01/09/2009 in clinical hemochromatosis this should be elevated. FERRITIN 539.4 01/09/2009 than 640.9 01/09/2009

Can you explain in simple words someone can understand what this means? My Grandfather died from Hemochromatosis and my dad test all but one of the genes.

Any information on the above information I provided would be appreciated. Thank you

Answer:

If I am reading these numbers correctly - it's hard to tell if it's a diagnosis code or an actual result - if the ferritin is actually 539 and 640, that suggests that significant iron overload is occurring.  The patient needs to be treated to get the iron levels down and should go back to their hematologist or subspecialist so they can get appropriate treatment.

If you live close to Columbus, Ohio, and we can help, we would be happy to pursue the workup for you. You may contact Daphne Lockett at 614-293-9441.


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