Hemochromatosis is a common inherited disorder of iron metabolism seen in, but not limited to, people of European descent. The recessively inherited disorder has a carrier frequency of 1/8 individuals and affects 1/250. Premature death may be caused by complications of chronic liver disease, hepatocellular carcinoma, or heart failure if the disease goes untreated. Early detection and treatment with routine phlebotomy can prevent these severe complications. For this reason, testing for hemochromatosis molecular testing is recommended in individuals with abnormal iron studies. Elevations in serum iron levels, transferrin saturation, and ferritin are often noted in patients with hemochromatosis. The molecular diagnosis of hemochromatosis involves an assay to detect two mutations within the Hfe (HLA-H) gene. Both the C282Y and H63D mutations have been associated with the clinical diagnosis of hemochromatosis, with the C282Y genotype being more penetrant.