High ferritin? Check iron first
What’s the best way to determine if increased ferritin is due to hemochromatosis in men? Anne Sorenson, MD, Oshawa, ON
There are many conditions, such as infection, inflammation, malignancy or liver disease, that are associated with high serum ferritin (SF). In these conditions, however, serum iron (SI) and iron saturation (IS) are normal or low. In hemochromatosis, as well as in chronic hemolytic anemia, myelodysplasias, aplastic anemias, megaloblastic anemias and in patients who have received multiple blood transfusion, both SF and IS are also high. The proper approach for investigation of a patient with high SF is to check serum iron and iron saturation. If both SF and IS are high and the patient is not anemic, hemochromatosis is a good possibility and you could order DNA analysis for hereditary hemochromatosis. In about 90% of the white population of European ancestry, hereditary hemochromatosis can be identified by DNA analysis. If DNA analysis doesn’t demonstrate the presence of hereditary hemochromatosis, but hemochromatosis is still suspected (because of continuous rise of SF and IS in the absence of anemia), measurement of liver iron, either by MRI or by liver biopsy, could confirm the diagnosis.