Iron Overload (Hemochromatosis)

Hereditary hemochromatosis is one of the most common inherited disorders among persons of Northern European descent. Screening should be conducted with serum levels of iron and total iron binding capacity, and patients with a transferrin-iron saturation greater than 45% should have repeat fasting measurements of serum iron and total iron binding capacity as well as serum ferritin and hepatic enzymes. Serum transferrin-iron saturation should also be measured in patients with liver disease. Patients who have a repeat transferrin-iron saturation greater than 45% should undergo HFE gene testing. Patients who have the homozygous C282Y genotype have type 1 hereditary hemochromatosis and should undergo subsequent testing for hepatic fibrosis by magnetic resonance imaging, transient elastography, serum markers of fibrosis, or liver biopsy. In patients who have iron overload but who are not C282Y homozygotes, other causes of iron overload should be sought, such as fatty liver disease, excess alcohol consumption, or chronic viral hepatitis. Family screening using iron studies is important for all patients with known or suspected hereditary hemochromatosis. Therapeutic phlebotomy remains the most effective therapy for most patients, although small-molecule therapies to block iron absorption are being studied and may have a role in the future.