{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T19:34:58Z","timestamp":1791920098782,"version":"4.3.4"},"reference-count":99,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2007,5,26]],"date-time":"2007-05-26T00:00:00Z","timestamp":1180137600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Aliment Pharmacol Ther"],"published-print":{"date-parts":[[2007,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p><jats:bold>Background\u2002<\/jats:bold> Since the seminal discovery of the <jats:italic>HFE<\/jats:italic> gene a decade ago, considerable further progress in unravelling the genetic basis of haemochromatosis has been made. Novel genes and iron overload phenotypes have been described with potential insights into the molecular pathophysiology of human iron metabolism.<\/jats:p><jats:p><jats:bold>Aim\u2002<\/jats:bold> To review recent key advances in the field of inherited iron overload and assess their impact on clinical practice and on our understanding of iron regulation.<\/jats:p><jats:p><jats:bold>Methods\u2002<\/jats:bold> A PubMed search was undertaken predominantly using \u2018haemochromatosis\u2019, \u2018HFE\u2019, \u2018hepcidin\u2019 and \u2018ferroportin\u2019. Illustrative cases were sought.<\/jats:p><jats:p><jats:bold>Results\u2002<\/jats:bold> The impact of <jats:italic>HFE<\/jats:italic> mutation analysis on the management of haemochromatosis is significant and allows early accurate diagnosis. <jats:italic>HFE<\/jats:italic> is also implicated in the siderosis associated with other liver pathologies. Non\u2010<jats:italic>HFE<\/jats:italic> genes underpinning other forms of haemochromatosis are now recognized and genotype\u2013phenotype interactions result in a spectrum of disease. These novel gene products interact with HFE in a common pathway for iron homeostasis.<\/jats:p><jats:p><jats:bold>Conclusions\u2002<\/jats:bold> Further identification of non\u2010<jats:italic>HFE<\/jats:italic> genes associated with iron homeostasis will enhance our diagnostic certainty of primary haemochromatosis and may explain the variable expression seen in <jats:italic>HFE<\/jats:italic>\u2010related disease. Improving our understanding of the mechanisms of iron regulation may lead to novel therapeutic strategies for the management of iron overload.<\/jats:p>","DOI":"10.1111\/j.1365-2036.2007.03387.x","type":"journal-article","created":{"date-parts":[[2010,7,23]],"date-time":"2010-07-23T12:21:38Z","timestamp":1279887698000},"page":"331-342","source":"Crossref","is-referenced-by-count":24,"title":["Review article: the genetic basis of haemochromatosis"],"prefix":"10.1111","volume":"26","author":[{"given":"W. J. 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