Pathogenesis of hereditary hemochromatosis.
Hereditary hemochromatosis comprises several inherited disorders of iron homeostasis characterized by increased gastrointestinal iron absorpstion and resultant tissue iron deposition. The identification of HFE and other genes involved in iron metabolism has greatly expanded our understanding of hereditary hemochromatosis. Two major hypotheses have been proposed to explain the pathogenesis of HFE-related hereditary hemochromatosis: the hepcidin hypothesis and the duodenal crypt cell programming hypothesis.
Fleming
Robert E
RE
Department of Pediatrics, Saint Louis University School of Medicine, Cardinal Glennon Childrens Hospital, 1465 S. Grand Blvd, St. Louis, MO 63104, USA. flemingr@slu.edu
Britton
Robert S
RS
Waheed
Abdul
A
Sly
William S
WS
Bacon
Bruce R
BR
D000818:Animals; D023181:Antimicrobial Cationic Peptides / Q000494:pharmacology; D004195:Disease Models, Animal; D004386:Duodenum / Q000166:cytology / Q000502:physiology; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000235:genetics* / Q000503:physiopathology*; D064451:Hepcidins; D006801:Humans; D007501:Iron / Q000378:metabolism* / Q000493:pharmacokinetics*; D051379:Mice
D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; C579599:Hamp protein, mouse; D064451:Hepcidins; D007501:Iron