[Hereditary hemochromatosis--diagnostic and therapeutic options]

Hereditary hemochromatosis is an autosomal recessive disorder resulting in iron overload. A progressive increase in total body iron stores leads to deposition of iron in parenchymal organs and to subsequent damage to these organs. The identification of the HFE gene and its mutations has stimulated much additional interest in this under-recognized but evidently treatable chronic disease. The goal for diagnosing the disease is to identify presymptomatic patients who will respond more favorably to phleobotomy which may prevent future chronic disease.