Hemochromatosis: diagnosis and management.
HH should be distinguished from the other syndromes of iron overload. Many patients with HH have abnormal serum iron values before the development of any significant symptoms or clinical findings, and liver biopsy is less important in these patients. HFE mutation analysis has strengthened our ability to diagnose HH accurately and is useful in family studies. HFE mutations may play a contributory role in some patients with PCT, NASH, or chronic HCV. Generalized population screening for HH may someday become a reality and lead to the identification and treatment of more patients before they have tissue damage or increased morbidity. With the identification of the HFE gene, we are beginning to unravel many of the mysteries of both normal iron absorption and the disorder of iron metabolism found in patients with HH.
Bacon
B R
BR
Division of Gastroenterology and Hepatology, Saint Louis University School of Medicine, St. Louis, Missouri 63110-0250, USA. baconbr@slu.edu
D006680:HLA Antigens / Q000235:genetics; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000145:classification; D008107:Liver Diseases / Q000235:genetics; D008565:Membrane Proteins; D009154:Mutation
C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins