Features of hereditary hemochromatosis include cirrhosis of the liver, diabetes, hyperpigmentation of the skin, heart failure, and hepatocellular carcinoma. Some authors have advocated widespread screening programs for the early detection of this disorder. Preclinical disease is more difficult to detect by these methods, with results being dependent on age, gender, and diet. Molecular analysis detects individuals at risk for developing hemochromatosis independent of these factors. Mutation detection, however, does not predict severity of disease or age of onset.
Presymptomatic detection is important since treatment can prevent organ damage.
Treatment for both symptomatic and presymptomatic patients consists of therapeutic phlebotomy. Initial treatment typically consists of an aggressive program, if tolerated, of weekly or biweekly therapeutic phlebotomies of up to one unit of blood. Successful treatment is documented by the demonstration of early iron deficiency anemia with microcytosis and markedly decreased serum transferrin saturation and serum ferritin concentrations. Serum ferritin levels usually normalize before transferrin saturation levels do. Maintenance therapy consists of phlebotomy at intervals of two to six months, based upon serum ferritin concentrations.