Hereditary hemochromatosis: recent advances in molecular genetics and clinical management

Background and Objective. Hereditary hemochromatosis (HC) is an inborn error of iron metabolism leading to increased intestinal iron absorption and progressive iron overload. There have been definite advances in our knowledge of the pathogenesis and management of idiopathic hemochromatosis in recent years, which prompted us to review this subject. Information sources. The material examined in the present review includes articles and abstracts published in the journals covered by the Science Citation Index® and Medline®. In addition, both authors have been working in this field for several years and have contributed twelve of the papers cited in the references. State of art and Perspectives. The disease is a late onset autosomic recessive condition, especially frequent in Caucasians. If unrecognized, severe clinical symptoms develop in mid-life related to organ failure. Early diagnosis prevents complications, since an intensive phlebotomy course removes excess iron and offers patients a...