{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T04:00:29Z","timestamp":1790136029780,"version":"4.0.1"},"reference-count":32,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T00:00:00Z","timestamp":1593475200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T00:00:00Z","timestamp":1593475200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Med Mol Morphol"],"published-print":{"date-parts":[[2021,3]]},"DOI":"10.1007\/s00795-020-00259-1","type":"journal-article","created":{"date-parts":[[2020,6,30]],"date-time":"2020-06-30T05:13:22Z","timestamp":1593494002000},"page":"60-67","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Type 4B hereditary hemochromatosis due to heterozygous p.D157A mutation in SLC40A1 complicated with hypopituitarism"],"prefix":"10.1007","volume":"54","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7112-3479","authenticated-orcid":false,"given":"Yuichi","family":"Honma","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tsukasa","family":"Karasuyama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Keiichiro","family":"Kumamoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shohei","family":"Shimajiri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasumichi","family":"Toki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yasuaki","family":"Tatsumi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazuhiro","family":"Sumida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenji","family":"Koikawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kahori","family":"Morino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinji","family":"Oe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koichiro","family":"Miyagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahiro","family":"Yamasaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michihiko","family":"Shibata","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shintaro","family":"Abe","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katsuya","family":"Ikuta","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisao","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaru","family":"Harada","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,6,30]]},"reference":[{"key":"259_CR1","doi-asserted-by":"publisher","first-page":"328","DOI":"10.1002\/hep.24330","volume":"54","author":"BR Bacon","year":"2011","unstructured":"Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS (2011) Diagnosis and Management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 54:328\u2013343","journal-title":"Hepatology"},{"key":"259_CR2","doi-asserted-by":"publisher","first-page":"706","DOI":"10.1016\/S0140-6736(15)01315-X","volume":"388","author":"LW Powell","year":"2016","unstructured":"Powell LW, Seckington RC, Deugnier Y (2016) Haemochromatosis. Lancet 388:706\u2013716","journal-title":"Lancet"},{"key":"259_CR3","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/j.jhep.2010.03.001","volume":"53","author":"European Association For The Study Of The Liver","year":"2010","unstructured":"European Association For The Study Of The Liver (2010) EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 53:3\u201322","journal-title":"J Hepatol"},{"key":"259_CR4","doi-asserted-by":"publisher","first-page":"1087","DOI":"10.1111\/jgh.12222","volume":"28","author":"CJ McDonald","year":"2013","unstructured":"McDonald CJ, Wallace DF, Crawford DH, Subramaniam VN (2013) Iron storage disease in Asia-Pacific populations: the importance of non-HFE mutations. J Gastroenterol Hepatol 28:1087\u20131094","journal-title":"J Gastroenterol Hepatol"},{"key":"259_CR5","doi-asserted-by":"publisher","first-page":"213","DOI":"10.1038\/90038","volume":"28","author":"OT Njajou","year":"2001","unstructured":"Njajou OT, Vaessen N, Joosse M, Berghuis B, van Dongen JW, Breuning MH, Snijders PJ, Rutten WP, Sandkuijl LA, Oostra BA, van Duijn CM, Heutink P (2001) A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet 28:213\u2013214","journal-title":"Nat Genet"},{"key":"259_CR6","doi-asserted-by":"publisher","first-page":"353","DOI":"10.1016\/j.bcmd.2007.09.011","volume":"40","author":"M Speletas","year":"2008","unstructured":"Speletas M, Kioumi A, Loules G, Hytiroglou P, Tsitouridis J, Christakis J, Germenis AE (2008) Analysis of SLC40A1 gene at the mRNA level reveals rapidly the causative mutations in patients with hereditary hemochromatosis type IV. Blood Cells Mol Dis 40:353\u2013359","journal-title":"Blood Cells Mol Dis"},{"key":"259_CR7","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1126\/science.aal2022","volume":"359","author":"DL Zhang","year":"2018","unstructured":"Zhang DL, Wu J, Shah BN, Greut\u00e9laers KC, Ghosh MC, Ollivierre H, Su XZ, Thuma PE, Bedu-Addo G, Mockenhaupt FP, Gordeuk VR, Rouault TA (2018) Erythrocytic ferroportin reduces intracellular iron accumulation, hemolysis, and malaria risk. Science 359:1520\u20131523","journal-title":"Science"},{"key":"259_CR8","doi-asserted-by":"publisher","first-page":"2090","DOI":"10.1126\/science.1104742","volume":"306","author":"E Nemeth","year":"2004","unstructured":"Nemeth E, Tuttle MS, Powelson J, Vaughn MB, Donovan A, Ward DM, Ganz T, Kaplan J (2004) Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization. Science 306:2090\u20132093","journal-title":"Science"},{"key":"259_CR9","doi-asserted-by":"publisher","first-page":"393","DOI":"10.1053\/j.gastro.2010.06.013","volume":"139","author":"A Pietrangelo","year":"2010","unstructured":"Pietrangelo A (2010) Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 139:393\u2013408","journal-title":"Gastroenterology"},{"key":"259_CR10","doi-asserted-by":"publisher","first-page":"777","DOI":"10.1016\/j.cmet.2015.09.006","volume":"22","author":"H Drakesmith","year":"2015","unstructured":"Drakesmith H, Nemeth E, Ganz T (2015) Ironing out Ferroportin. Cell Metab 22:777\u2013787","journal-title":"Cell Metab"},{"key":"259_CR11","doi-asserted-by":"publisher","first-page":"1796","DOI":"10.3324\/haematol.2018.189845","volume":"103","author":"C Ka","year":"2018","unstructured":"Ka C, Guellec J, Pepermans X, Kannengiesser C, Ged C, Wuyts W, Cassiman D, de Ledinghen V, Varet B, de Kerguenec C, Oudin C, Gourlaouen I, Lefebvre T, F\u00e9rec C, Callebaut I, Le Gac G (2018) The SLC40A1 R178Q mutation is a recurrent cause of hemochromatosis and is associated with a novel pathogenic mechanism. Haematologica 103:1796\u20131805","journal-title":"Haematologica"},{"key":"259_CR12","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1111\/j.1365-2036.2007.03387.x","volume":"26","author":"WJ Griffith","year":"2007","unstructured":"Griffith WJ (2007) Review article: the genetic basis of hemochromatosis. Aliment Pharmacol Ther 26:331\u2013342","journal-title":"Aliment Pharmacol Ther"},{"key":"259_CR13","doi-asserted-by":"publisher","first-page":"505","DOI":"10.1016\/j.jhep.2015.11.009","volume":"64","author":"P Brissot","year":"2016","unstructured":"Brissot P, Loreal O (2016) Iron metabolism and related genetic diseases: a cleared land, keeping mysteries. J Hepatol 64:505\u2013515","journal-title":"J Hepatol"},{"key":"259_CR14","doi-asserted-by":"publisher","first-page":"131","DOI":"10.1016\/j.bcmd.2003.08.003","volume":"32","author":"A Pietrangelo","year":"2004","unstructured":"Pietrangelo A (2004) The ferroportin disease. Blood Cells Mol Dis 32:131\u2013138","journal-title":"Blood Cells Mol Dis"},{"key":"259_CR15","doi-asserted-by":"publisher","first-page":"8955","DOI":"10.1073\/pnas.0503804102","volume":"102","author":"I De Domenico","year":"2005","unstructured":"De Domenico I, Ward DM, Nemeth E, Vaughn MB, Musci G, Ganz T, Kaplan J (2005) The molecular basis of ferroportin-linked hemochromatosis. Proc Natl Acad Sci USA 102:8955\u20138960","journal-title":"Proc Natl Acad Sci USA"},{"key":"259_CR16","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.3324\/haematol.2017.170720","volume":"102","author":"A Pietrangelo","year":"2017","unstructured":"Pietrangelo A (2017) Ferroportin disease: pathogenesis, diagnosis and treatment. Haematologica 102:1972\u20131984","journal-title":"Haematologica"},{"key":"259_CR17","doi-asserted-by":"publisher","first-page":"941","DOI":"10.1016\/j.jhep.2010.05.016","volume":"53","author":"R Mayr","year":"2010","unstructured":"Mayr R, Janecke AR, Schranz M, Griffiths WJH, Vogel W, Pietrangelo A, Zoller H (2010) Ferroportin disease: a systematic meta-analysis of clinical and molecular findings. J Hepatol 53:941\u2013949","journal-title":"J Hepatol"},{"key":"259_CR18","doi-asserted-by":"publisher","first-page":"4479","DOI":"10.1093\/hmg\/ddu160","volume":"23","author":"I Callebaut","year":"2014","unstructured":"Callebaut I, Joubrel R, Pissard S, Kannengiesser C, G\u00e9rolami V, Ged C, Cadet E, Cartault F, Ka C, Gourlaouen I, Gourhant L, Oudin C, Goossens M, Grandchamp B, De Verneuil H, Rochette J, F\u00e9rec C, Le Gac G (2014) Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients. Hum Mol Genet 23:4479\u20134490","journal-title":"Hum Mol Genet"},{"key":"259_CR19","doi-asserted-by":"publisher","first-page":"E132","DOI":"10.3390\/ph12030132","volume":"12","author":"LT Vlasveld","year":"2019","unstructured":"Vlasveld LT, Janssen R, Bardou-Jacquet E, Venselaar H, Hamdi-Roze H, Drakesmith H, Swinkels DW (2019) Twenty years of ferroportin disease: a review or an update of published clinical, biochemical, molecular, and functional features. Pharmaceuticals (Basel) 12:E132","journal-title":"Pharmaceuticals (Basel)"},{"key":"259_CR20","doi-asserted-by":"publisher","first-page":"2056","DOI":"10.1053\/j.gastro.2011.02.064","volume":"140","author":"R Mayr","year":"2011","unstructured":"Mayr R, Griffiths WJ, Hermann M, McFarlane I, Halsall DJ, Finkenstedt A, Douds A, Davies SE, Janecke AR, Vogel W, Cox TM, Zoller H (2011) Identification of mutations in SLC40A1 that affect ferroportin function and phenotype of human ferroportin iron overload. Gastroenterology 140:2056\u20132063","journal-title":"Gastroenterology"},{"key":"259_CR21","doi-asserted-by":"publisher","first-page":"e8064","DOI":"10.1097\/MD.0000000000008064","volume":"96","author":"W Zhang","year":"2017","unstructured":"Zhang W, Lv T, Huang J, Ou X (2017) Type 4B hereditary hemochromatosis associated with a novel mutation in the SLC40A1 gene: a case report and a review of the literature. Medicine (Baltimore) 96:e8064","journal-title":"Medicine (Baltimore)"},{"key":"259_CR22","doi-asserted-by":"publisher","first-page":"464","DOI":"10.1016\/j.bbadis.2017.11.006","volume":"1864","author":"S Majore","year":"2018","unstructured":"Majore S, Bonaccorsi di Patti MC, Valiante M, Polticelli F, Cortese A, Di Bartolomeo S, De Bernardo C, De Muro M, Faienza F, Radio FC, Grammatico P, Musci G (2018) Characterization of three novel pathogenic SLC40A1 mutations and genotype\/phenotype correlation in 7 Italian families with type 4 hereditary hemochromatosis. Biochim Biophys Acta Mol Basis Dis 1864:464\u2013470","journal-title":"Biochim Biophys Acta Mol Basis Dis"},{"key":"259_CR23","doi-asserted-by":"publisher","first-page":"2033","DOI":"10.1016\/j.yexcr.2007.04.024","volume":"313","author":"K Zatloukal","year":"2007","unstructured":"Zatloukal K, French SW, Stumptner C, Strnad P, Harada M, Toivola DM, Cardin M, Omary MB (2007) From Mallory to Mallory-Denk bodies: what, how and why? Exp Cell Res 313:2033\u20132049","journal-title":"Exp Cell Res"},{"key":"259_CR24","doi-asserted-by":"publisher","first-page":"270","DOI":"10.1111\/j.1872-034X.2010.00754.x","volume":"41","author":"Y Honma","year":"2011","unstructured":"Honma Y, Harada M, Sato M, Katsuki Y, Hiura M, Shibata M, Narita R, Harada R, Abe S, Tabaru A, Tajiri N, Shimajiri S (2011) Late diagnosed Wilson disease with hepatic and neurological manifestations. Hepatol Res 41:270\u2013276","journal-title":"Hepatol Res"},{"key":"259_CR25","doi-asserted-by":"publisher","first-page":"2026","DOI":"10.1002\/hep.22294","volume":"47","author":"M Harada","year":"2008","unstructured":"Harada M, Hanada S, Toivola DM, Ghori N, Omary MB (2008) Autophagy activation by rapamycin eliminates mouse Mallory-Denk bodies and blocks their proteasome inhibitor-mediated formation. Hepatology 47:2026\u20132035","journal-title":"Hepatology"},{"key":"259_CR26","doi-asserted-by":"publisher","first-page":"226","DOI":"10.1053\/j.gastro.2007.10.011","volume":"134","author":"S Nishina","year":"2008","unstructured":"Nishina S, Hino K, Korenaga M, Vecchi C, Pietrangelo A, Mizukami Y, Furutani T, Sakai A, Okuda M, Hidaka I, Okita K, Sakaida I (2008) Hepatitis C virus-induced reactive oxygen species raise hepatic iron level in mice by reducing hepcidin transcription. Gastroenterology 134:226\u2013238","journal-title":"Gastroenterology"},{"key":"259_CR27","doi-asserted-by":"publisher","first-page":"1107","DOI":"10.2169\/internalmedicine.45.1876","volume":"45","author":"H Hayashi","year":"2006","unstructured":"Hayashi H, Wakusawa S, Motonishi S, Miyamoto K, Okada H, Inagaki Y, Ikeda T (2006) Genetic background of primary iron overload syndrome in Japan. Intern Med 45:1107\u20131111","journal-title":"Intern Med"},{"key":"259_CR28","doi-asserted-by":"publisher","first-page":"260","DOI":"10.1007\/s12328-014-0487-1","volume":"7","author":"T Yamashita","year":"2014","unstructured":"Yamashita T, Morotomi N, Sohda T, Hayashi H, Yoshida N, Ochi K, Ohkura I, Karita M, Fujiwara H, Yamashita H, Hattori A, Tatsumi Y (2014) A male patient with ferroportin disease B and a female patient with iron overload similar to ferroportin disease B. Clin J Gastroenterol 7:260\u2013264","journal-title":"Clin J Gastroenterol"},{"key":"259_CR29","doi-asserted-by":"publisher","first-page":"990","DOI":"10.2169\/internalmedicine.44.990","volume":"44","author":"C Koyama","year":"2005","unstructured":"Koyama C, Wakusawa S, Hayashi H, Ueno T, Suzuki R, Yano M, Saito H, Okazaki T (2005) A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron. Intern Med 44:990\u2013993","journal-title":"Intern Med"},{"key":"259_CR30","doi-asserted-by":"publisher","first-page":"285","DOI":"10.2169\/internalmedicine.44.285","volume":"44","author":"W Liu","year":"2005","unstructured":"Liu W, Shimomura S, Imanishi H, Iwamoto Y, Ikeda N, Saito M, Ohno M, Hara N, Yamamoto T, Nakamura H, Hada T (2005) Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene. Intern Med 44:285\u2013289","journal-title":"Intern Med"},{"key":"259_CR31","doi-asserted-by":"publisher","first-page":"914","DOI":"10.1111\/j.1365-2141.2010.08137.x","volume":"149","author":"K Saja","year":"2010","unstructured":"Saja K, Bignell P, Robson K, Provan D (2010) A novel missense mutation c.470 A>C (p. D157A) in the SLC40A1 gene as a cause of ferroportin disease in a family with hyperferritinemia. Br J Haematol 149:914\u2013916","journal-title":"Br J Haematol"},{"key":"259_CR32","doi-asserted-by":"publisher","first-page":"1199","DOI":"10.1053\/j.gastro.2010.12.049","volume":"140","author":"C Le Lan","year":"2011","unstructured":"Le Lan C, Mosser A, Ropert M, Detivaud L, Loustaud-Ratti V, Vital-Durand D, Roget L, Bardou-Jacquet E, Turlin B, David V, Lor\u00e9al O, Deugnier Y, Brissot P, Jouanolle AM (2011) Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 140:1199\u20131207","journal-title":"Gastroenterology"}],"container-title":["Medical Molecular Morphology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00795-020-00259-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00795-020-00259-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00795-020-00259-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,6,29]],"date-time":"2021-06-29T23:49:02Z","timestamp":1625010542000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00795-020-00259-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,6,30]]},"references-count":32,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2021,3]]}},"alternative-id":["259"],"URL":"https:\/\/doi.org\/10.1007\/s00795-020-00259-1","relation":{},"ISSN":["1860-1480","1860-1499"],"issn-type":[{"value":"1860-1480","type":"print"},{"value":"1860-1499","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,6,30]]},"assertion":[{"value":"16 April 2020","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 June 2020","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"30 June 2020","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Compliance with ethical standards"}},{"value":"The authors declare that there are no conflicts of interests.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}