HEREDITARY HEMOCHROMATOSIS

Genetic (hereditary) hemochromatosis is probably the most common autos omal recessive disorder found in white Americans, of whom about 5/1,00 0 (0.5 percent) are homozygous for the associated gene. The hemochroma tosis gene is probably located close to the HLA-A locus on the short a rm of chromosome 6. Homozygous individuals may develop severe and pote ntially lethal hemochromatosis, especially after age 39. Hereditary he mochromatosis im involves an increased rate of iron absorption from th e gut with subsequent progressive storage of iron in soft organs of th e body. Excess iron storage eventually produces pituitary, pancreatic, cardiac, and liver dysfunction and death may result from cardiac arrh ythmias, congestive heart failure, and/or hepatic failure or cancer. E arly diagnosis can prevent these excess iron-induced problems. Iron ov erload owing to HLA-linked hereditary hemochromatosis can be distingui shed from other causes of hemochromatosis by liver biopsies and interp retations. Patients at risk for genetic hemochromatosis should be scre ened, identified, and treated as early as age 30 to prevent or minimiz e the deadly complications of hemochromatosis. Population screening sh ould include measurements of serum iron concentration, total iron bind ing capacity (TIBC), percent saturation of transferrin, and serum ferr itin concentrations. Family members of hereditary hemochromatosis pati ents are at increased risk and should be tested. Screening, identifica tion and early treatment (phlebotomies, sometimes in combination with the use of Desferal (R) or other iron-chelating agents) may help preve nt or reduce iron-related organ damage and premature deaths. Early dia gnosis and treatment will reduce the population of aging individuals w ith severe, complicated hemochromatosis and dramatically reduce medica l costs (billions of U.S. dollars per annum) associated with the manag ement of this disease.