How would you approach the management of a patient with elevated iron saturation (60%) and ferritin (500s) with negative genetic testing for hemochromatosis?

I would approach this clinical scenario in the following manner:

Always starting with good medical and family history first.

• Is there any history compatible with secondary hemochromatosis (i.e., history of blood or multiple iron transfusions)?
• Could the patient be tested for other non-282Y genetic mutations, such as hemojuvelin, hepcidin or ferroportin?

Second, would investigate what is the degree of organ iron burden, concentrating on both liver and heart. In addition to routine blood liver t...