{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T04:00:03Z","timestamp":1790136003512,"version":"4.0.1"},"reference-count":33,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,5,1]],"date-time":"2008-05-01T00:00:00Z","timestamp":1209600000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2008,5]]},"DOI":"10.1016\/j.bcmd.2007.11.001","type":"journal-article","created":{"date-parts":[[2007,12,26]],"date-time":"2007-12-26T11:24:39Z","timestamp":1198668279000},"page":"328-333","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":9,"title":["Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del \u201closs of function\u201d mutations in ferroportin disease"],"prefix":"10.1016","volume":"40","author":[{"given":"Francesca L.","family":"Lim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James S.","family":"Dooley","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony W.","family":"Roques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leonie","family":"Grellier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amar P.","family":"Dhillon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ann P.","family":"Walker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.bcmd.2007.11.001_bib1","doi-asserted-by":"crossref","first-page":"619","DOI":"10.1172\/JCI200113468","article-title":"Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene","volume":"108","author":"Montosi","year":"2001","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bcmd.2007.11.001_bib2","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1016\/j.bcmd.2003.08.003","article-title":"The ferroportin disease","volume":"32","author":"Pietrangelo","year":"2004","journal-title":"Blood Cells Mol. Diseases"},{"key":"10.1016\/j.bcmd.2007.11.001_bib3","doi-asserted-by":"crossref","first-page":"695","DOI":"10.1182\/blood-2001-11-0132","article-title":"Autosomal dominant reticuloendothelial iron overload associated with a 3-base pair deletion in the ferroportin 1 gene (SLC11A3)","volume":"100","author":"Devalia","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2007.11.001_bib4","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1046\/j.1365-2141.2002.03946.x","article-title":"Genetic hyperferritinaemia and reticuloendothelial iron overload associated with a three base pair deletion in the coding region of the ferroportin gene (SLC11A3)","volume":"119","author":"Cazzola","year":"2002","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib5","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1056\/NEJM199909023411003","article-title":"Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene","volume":"341","author":"Pietrangelo","year":"1999","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.bcmd.2007.11.001_bib6","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1016\/j.bcmd.2004.12.002","article-title":"Autosomal dominant hereditary hemochromatosis associated with a novel ferroportin mutation and unique clinical features","volume":"34","author":"Sham","year":"2005","journal-title":"Blood Cells Mol. Diseases"},{"key":"10.1016\/j.bcmd.2007.11.001_bib7","doi-asserted-by":"crossref","first-page":"921","DOI":"10.1016\/j.jhep.2007.01.033","article-title":"A novel mutation in ferroportin implicated in iron overload","volume":"46","author":"Wallace","year":"2007","journal-title":"J. Hepatol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib8","series-title":"Liver Biopsy Interpretation","author":"Scheuer","year":"2000"},{"key":"10.1016\/j.bcmd.2007.11.001_bib9","first-page":"2211","article-title":"Hemochromatosis","volume":"vol. II","author":"Bothwell","year":"1995"},{"key":"10.1016\/j.bcmd.2007.11.001_bib10","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1016\/S0950-3528(98)90132-4","article-title":"Juvenile haemochromatosis","volume":"12","author":"Camaschella","year":"1998","journal-title":"Bailliere's Clin. Gastroenterol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib11","doi-asserted-by":"crossref","first-page":"1295","DOI":"10.1053\/gast.2002.32984","article-title":"Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene","volume":"122","author":"Girelli","year":"2002","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2007.11.001_bib12","first-page":"137","article-title":"Reticuloendothelial iron stores and hereditary hemochromatosis: a paradox","volume":"113","author":"McLaren","year":"1989","journal-title":"J. Lab. Clin. Med."},{"key":"10.1016\/j.bcmd.2007.11.001_bib13","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1016\/0016-5085(95)90026-8","article-title":"Duodenal ferritin synthesis in genetic hemochromatosis","volume":"108","author":"Pietrangelo","year":"1995","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2007.11.001_bib14","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1080\/713609210","article-title":"Iron metabolism in the reticuloendothelial system","volume":"38","author":"Knutson","year":"2003","journal-title":"Crit. Rev. Biochem. Mol. Biol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib15","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1126\/science.1104742","article-title":"Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization","volume":"306","author":"Nemeth","year":"2004","journal-title":"Science"},{"key":"10.1016\/j.bcmd.2007.11.001_bib16","doi-asserted-by":"crossref","first-page":"4096","DOI":"10.1182\/blood-2004-11-4502","article-title":"In vitro functional analysis of human ferroportin (FPN) and hemochromatosis-associated FPN mutations","volume":"105","author":"Schimanski","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2007.11.001_bib17","doi-asserted-by":"crossref","first-page":"8955","DOI":"10.1073\/pnas.0503804102","article-title":"The molecular basis of ferroportin-linked hemochromatosis","volume":"102","author":"Felice","year":"2005","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.bcmd.2007.11.001_bib18","doi-asserted-by":"crossref","first-page":"537","DOI":"10.1136\/jmg.36.7.537","article-title":"Atypical haemochromatosis: phenotypic spectrum and beta2-microglobulin candidate gene analysis","volume":"36","author":"Walker","year":"1999","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.bcmd.2007.11.001_bib19","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1136\/gut.41.6.841","article-title":"A simple genetic test identifies 90% of UK patients with haemochromatosis","volume":"41","author":"The UK Haemochromatosis Consortium","year":"1997","journal-title":"Gut"},{"key":"10.1016\/j.bcmd.2007.11.001_bib20","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1038\/15452","article-title":"Polymorphism in intron 4 of HFE does not compromise haemochromatosis mutation results. The European Haemochromatosis Consortium","volume":"23","author":"Merryweather-Clarke","year":"1999","journal-title":"Nat. Genet."},{"key":"10.1016\/j.bcmd.2007.11.001_bib21","doi-asserted-by":"crossref","first-page":"474","DOI":"10.1016\/S0168-8278(01)00304-X","article-title":"Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y","volume":"36","author":"Wallace","year":"2002","journal-title":"J. Hepatol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib22","doi-asserted-by":"crossref","first-page":"1409","DOI":"10.1016\/S0016-5085(99)70505-6","article-title":"A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote","volume":"116","author":"Wallace","year":"1999","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2007.11.001_bib23","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1002\/hep.1840060106","article-title":"Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis","volume":"6","author":"Bassett","year":"1986","journal-title":"Hepatology"},{"key":"10.1016\/j.bcmd.2007.11.001_bib24","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1111\/j.1572-0241.2001.03472.x","article-title":"Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?","volume":"96","author":"Adams","year":"2001","journal-title":"Am. J. Gastroenterol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib25","doi-asserted-by":"crossref","first-page":"1048","DOI":"10.1136\/gut.2005.069021","article-title":"Ferroportin disease due to the A77D mutation in Australia","volume":"54","author":"Subramaniam","year":"2005","journal-title":"Gut"},{"key":"10.1016\/j.bcmd.2007.11.001_bib26","doi-asserted-by":"crossref","first-page":"692","DOI":"10.1182\/blood.V100.2.692","article-title":"Novel mutation in ferroportin1 is associated with autosomal dominant hemochromatosis","volume":"100","author":"Wallace","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2007.11.001_bib27","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1182\/blood-2002-03-0693","article-title":"A valine deletion of ferroportin 1: a common mutation in hemochromatosis type 4","volume":"100","author":"Roetto","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.bcmd.2007.11.001_bib28","doi-asserted-by":"crossref","first-page":"567","DOI":"10.1136\/gut.2004.060988","article-title":"Identification of ferroportin disease in the Indian subcontinent","volume":"54","author":"Wallace","year":"2005","journal-title":"Gut"},{"key":"10.1016\/j.bcmd.2007.11.001_bib29","first-page":"122","article-title":"Liver fibrosis in genetic hemochromatosis. Respective roles of iron and non-iron-related factors in 127 homozygous patients","volume":"16","author":"Loreal","year":"1992","journal-title":"J. Hepatol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib30","doi-asserted-by":"crossref","first-page":"172","DOI":"10.1016\/S0168-8278(96)80070-5","article-title":"Variability in hepatic iron concentration measurement from needle-biopsy specimens","volume":"25","author":"Villeneuve","year":"1996","journal-title":"J. Hepatol."},{"key":"10.1016\/j.bcmd.2007.11.001_bib31","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1097\/00125817-200009000-00001","article-title":"Contribution of different HFE genotypes to iron overload disease: a pooled analysis","volume":"2","author":"Burke","year":"2000","journal-title":"Genet. Med."},{"key":"10.1016\/j.bcmd.2007.11.001_bib32","doi-asserted-by":"crossref","first-page":"1118","DOI":"10.1016\/0016-5085(94)90237-2","article-title":"Excess iron into hepatocytes is required for activation of collagen type I gene during experimental siderosis","volume":"107","author":"Gualdi","year":"1994","journal-title":"Gastroenterology"},{"key":"10.1016\/j.bcmd.2007.11.001_bib33","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1016\/0014-5793(88)81305-X","article-title":"Structural specificity of haemosiderin iron cores in iron-overload diseases","volume":"234","author":"Mann","year":"1988","journal-title":"FEBS Lett."}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979607002495?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979607002495?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T12:24:37Z","timestamp":1761049477000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979607002495"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5]]},"references-count":33,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2008,5]]}},"alternative-id":["S1079979607002495"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2007.11.001","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2008,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hepatic iron concentration, fibrosis and response to venesection associated with the A77D and V162del \u201closs of function\u201d mutations in ferroportin disease","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2007.11.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2007 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}