{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,5]],"date-time":"2026-06-05T05:44:47Z","timestamp":1780638287757,"version":"3.54.1"},"publisher-location":"Cham","reference-count":65,"publisher":"Springer Nature Switzerland","isbn-type":[{"value":"9783031920325","type":"print"},{"value":"9783031920332","type":"electronic"}],"license":[{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,1,1]],"date-time":"2025-01-01T00:00:00Z","timestamp":1735689600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025]]},"DOI":"10.1007\/978-3-031-92033-2_10","type":"book-chapter","created":{"date-parts":[[2025,7,2]],"date-time":"2025-07-02T17:44:13Z","timestamp":1751478253000},"page":"131-143","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Diagnosis and Management of Non-HFE Hemochromatosis, Ferroportin Disease, and Rare Hereditary Iron-Loading Disorders"],"prefix":"10.1007","author":[{"given":"Antonello","family":"Pietrangelo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2025,7,3]]},"reference":[{"issue":"8","key":"10_CR2","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1136\/gut.52.8.1215","volume":"52","author":"KE Arden","year":"2003","unstructured":"Arden KE, Wallace DF, Dixon JL, Summerville L, Searle JW, Anderson GJ, Ramm GA, Powell LW, Subramaniam VN (2003) A novel mutation in ferroportin1 is associated with haemochromatosis in a Solomon Islands patient. Gut 52(8):1215\u20131217","journal-title":"Gut"},{"issue":"9","key":"10_CR3","doi-asserted-by":"publisher","DOI":"10.1016\/j.heliyon.2022.e10460","volume":"8","author":"YL Bahati","year":"2022","unstructured":"Bahati YL, Delanghe J, Balaluka GB, Vandepoele K, Cirhuza JC, Kishabongo AS, Philippe J (2022) Ferroportin Q248H mutation was not found to be protective against malaria and anemia in children under 5 years living in South Kivu\/Democratic Republic of Congo, an endemic area of P lasmodium infection. Heliyon 8(9):e10460. https:\/\/doi.org\/10.1016\/j.heliyon.2022.e10460","journal-title":"Heliyon"},{"issue":"3","key":"10_CR4","doi-asserted-by":"publisher","first-page":"310","DOI":"10.1016\/S1079-9796(03)00166-9","volume":"31","author":"JC Barton","year":"2003","unstructured":"Barton JC, Acton RT, Rivers CA, Bertoli LF, Gelbart T, West C, Beutler E (2003) Genotypic and phenotypic heterogeneity of African Americans with primary iron overload. Blood Cells Mol Dis 31(3):310\u2013319","journal-title":"Blood Cells Mol Dis"},{"issue":"7831","key":"10_CR5","doi-asserted-by":"publisher","first-page":"807","DOI":"10.1038\/s41586-020-2668-z","volume":"586","author":"CB Billesbolle","year":"2020","unstructured":"Billesbolle CB, Azumaya CM, Kretsch RC, Powers AS, Gonen S, Schneider S, Arvedson T, Dror RO, Cheng Y, Manglik A (2020) Structure of hepcidin-bound ferroportin reveals iron homeostatic mechanisms. Nature 586(7831):807\u2013811. https:\/\/doi.org\/10.1038\/s41586-020-2668-z","journal-title":"Nature"},{"issue":"2","key":"10_CR6","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1016\/S0950-3528(98)90132-4","volume":"12","author":"C Camaschella","year":"1998","unstructured":"Camaschella C (1998) Juvenile haemochromatosis. Baillieres Clin Gastroenterol 12(2):227\u2013235","journal-title":"Baillieres Clin Gastroenterol"},{"issue":"4","key":"10_CR7","doi-asserted-by":"publisher","first-page":"512","DOI":"10.1111\/bjh.13820","volume":"172","author":"C Camaschella","year":"2016","unstructured":"Camaschella C, Nai A (2016) Ineffective erythropoiesis and regulation of iron status in iron loading anaemias. Br J Haematol 172(4):512\u2013523. https:\/\/doi.org\/10.1111\/bjh.13820","journal-title":"Br J Haematol"},{"issue":"1","key":"10_CR8","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1038\/75534","volume":"25","author":"C Camaschella","year":"2000","unstructured":"Camaschella C, Roetto A, Cali A, De Gobbi M, Garozzo G, Carella M, Majorano N, Totaro A, Gasparini P (2000) The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet 25(1):14\u201315","journal-title":"Nat Genet"},{"issue":"4","key":"10_CR9","doi-asserted-by":"publisher","first-page":"242","DOI":"10.1053\/shem.2002.35635","volume":"39","author":"C Camaschella","year":"2002","unstructured":"Camaschella C, Roetto A, De Gobbi M (2002) Juvenile hemochromatosis. Semin Hematol 39(4):242\u2013248. https:\/\/doi.org\/10.1053\/shem.2002.35635","journal-title":"Semin Hematol"},{"issue":"1","key":"10_CR10","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1186\/s13256-017-1526-6","volume":"12","author":"SD Cooray","year":"2018","unstructured":"Cooray SD, Heerasing NM, Selkrig LA, Subramaniam VN, Hamblin PS, McDonald CJ, McLean CA, McNamara E, Leet AS, Roberts SK (2018) Reversal of end-stage heart failure in juvenile hemochromatosis with iron chelation therapy: a case report. J Med Case Rep 12(1):18. https:\/\/doi.org\/10.1186\/s13256-017-1526-6","journal-title":"J Med Case Rep"},{"issue":"7","key":"10_CR11","doi-asserted-by":"publisher","first-page":"1030","DOI":"10.1136\/gut.2007.122549","volume":"56","author":"E Corradini","year":"2007","unstructured":"Corradini E, Ferrara F, Pollicino T, Vegetti A, Abbati GL, Losi L, Raimondo G, Pietrangelo A (2007) Disease progression and liver cancer in the ferroportin disease. Gut 56(7):1030\u20131032. https:\/\/doi.org\/10.1136\/gut.2007.122549","journal-title":"Gut"},{"issue":"7","key":"10_CR12","doi-asserted-by":"publisher","first-page":"3355","DOI":"10.1007\/s00018-020-03747-w","volume":"78","author":"A Cozzi","year":"2021","unstructured":"Cozzi A, Santambrogio P, Ripamonti M, Rovida E, Levi S (2021) Pathogenic mechanism and modeling of neuroferritinopathy. Cell Mol Life Sci 78(7):3355\u20133367. https:\/\/doi.org\/10.1007\/s00018-020-03747-w","journal-title":"Cell Mol Life Sci"},{"issue":"4","key":"10_CR13","doi-asserted-by":"publisher","first-page":"350","DOI":"10.1038\/ng571","volume":"28","author":"AR Curtis","year":"2001","unstructured":"Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J (2001) Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet 28(4):350\u2013354","journal-title":"Nat Genet"},{"issue":"5","key":"10_CR14","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2020.103874","volume":"63","author":"R Dabboubi","year":"2020","unstructured":"Dabboubi R, Amri Y, Yahyaoui S, Mahjoub R, Sahli CA, Sahli C, Hadj Fredj S, Bibi A, Sammoud A, Messaoud T (2020) A new case of congenital atransferrinemia with a novel splice site mutation: c.293-63del. Eur J Med Genet 63(5):103874. https:\/\/doi.org\/10.1016\/j.ejmg.2020.103874","journal-title":"Eur J Med Genet"},{"issue":"3","key":"10_CR15","doi-asserted-by":"publisher","first-page":"672","DOI":"10.1053\/j.gastro.2015.10.049","volume":"150","author":"R Daher","year":"2016","unstructured":"Daher R, Kannengiesser C, Houamel D, Lefebvre T, Bardou-Jacquet E, Ducrot N, de Kerguenec C, Jouanolle AM, Robreau AM, Oudin C, Le Gac G, Moulouel B, Loustaud-Ratti V, Bedossa P, Valla D, Gouya L, Beaumont C, Brissot P, Puy H, Karim Z, Tchernitchko D (2016) Heterozygous mutations in BMP6 pro-peptide Lead to inappropriate Hepcidin synthesis and moderate iron overload in humans. Gastroenterology 150(3):672\u2013683. https:\/\/doi.org\/10.1053\/j.gastro.2015.10.049","journal-title":"Gastroenterology"},{"key":"10_CR16","first-page":"226","volume":"20","author":"RJ Eason","year":"1990","unstructured":"Eason RJ, Adams PC, Aston CE, Searle J (1990) Familial iron overload with possible autosomal dominant inheritance. AustNZJMed 20:226\u2013230","journal-title":"AustNZJMed"},{"key":"10_CR016","doi-asserted-by":"publisher","unstructured":"Fabio G, Minonzio F, Delbini P, Bianchi A, Cappellini MD (2007) Reversal of cardiac complications by deferiprone and deferoxamine combination therapy in a patient affected by a severe type of juvenile hemochromatosis (JH). Blood 109(1):362\u2013364. https:\/\/doi.org\/10.1182\/blood-2006-04-016949","DOI":"10.1182\/blood-2006-04-016949"},{"issue":"4","key":"10_CR17","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/ng0896-399","volume":"13","author":"JN Feder","year":"1996","unstructured":"Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK (1996) A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 13(4):399\u2013408. https:\/\/doi.org\/10.1038\/ng0896-399","journal-title":"Nat Genet"},{"issue":"4","key":"10_CR18","doi-asserted-by":"publisher","first-page":"348","DOI":"10.1056\/NEJMra1004967","volume":"366","author":"RE Fleming","year":"2012","unstructured":"Fleming RE, Ponka P (2012) Iron overload in human disease. N Engl J Med 366(4):348\u2013359. https:\/\/doi.org\/10.1056\/NEJMra1004967","journal-title":"N Engl J Med"},{"issue":"1","key":"10_CR19","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1016\/j.bcmd.2004.04.006","volume":"33","author":"VR Gordeuk","year":"2004","unstructured":"Gordeuk VR, Caleffi A, Corradini E, Ferrara F, Jones RA, Castro O, Onyekwere O, Kittles R, Pignatti E, Montosi G, Garuti C, Gangaidzo IT, Gomo ZAR, Moyo VM, Rouault TA, MacPhail P, Pietrangelo A (2004) Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene (vol 31, pg 299, 2003). Blood Cells Mol Dis 33(1):94\u201394. https:\/\/doi.org\/10.1016\/j.bcmd.2004.04.006","journal-title":"Blood Cells Mol Dis"},{"key":"10_CR20","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1016\/j.bcmd.2018.10.006","volume":"74","author":"H Hamdi-Roze","year":"2019","unstructured":"Hamdi-Roze H, Ben Ali Z, Ropert M, Detivaud L, Aggoune S, Simon D, Pelletier G, Deugnier Y, David V, Bardou-Jacquet E (2019) Variable expressivity of HJV related hemochromatosis: \u201cJuvenile\u201d hemochromatosis? Blood Cells Mol Dis 74:30\u201333. https:\/\/doi.org\/10.1016\/j.bcmd.2018.10.006","journal-title":"Blood Cells Mol Dis"},{"issue":"4","key":"10_CR21","doi-asserted-by":"publisher","first-page":"358","DOI":"10.1053\/j.seminhematol.2009.06.005","volume":"46","author":"A Iolascon","year":"2009","unstructured":"Iolascon A, De Falco L (2009) Mutations in the gene encoding DMT1: clinical presentation and treatment. Semin Hematol 46(4):358\u2013370. https:\/\/doi.org\/10.1053\/j.seminhematol.2009.06.005","journal-title":"Semin Hematol"},{"issue":"1","key":"10_CR22","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1053\/hupa.2002.30217","volume":"33","author":"A Kawashima","year":"2002","unstructured":"Kawashima A, Oda Y, Yachie A, Koizumi S, Nakanishi I (2002) Heme oxygenase-1 deficiency: the first autopsy case. Hum Pathol 33(1):125\u2013130. https:\/\/doi.org\/10.1053\/hupa.2002.30217","journal-title":"Hum Pathol"},{"key":"10_CR23","doi-asserted-by":"publisher","first-page":"125","DOI":"10.1016\/B978-0-12-410502-7.00007-7","volume":"110","author":"S Kono","year":"2013","unstructured":"Kono S (2013) Aceruloplasminemia: an update. Int Rev Neurobiol 110:125\u2013151. https:\/\/doi.org\/10.1016\/B978-0-12-410502-7.00007-7","journal-title":"Int Rev Neurobiol"},{"issue":"11","key":"10_CR24","doi-asserted-by":"publisher","first-page":"968","DOI":"10.1016\/j.bbadis.2010.07.011","volume":"1802","author":"S Kono","year":"2010","unstructured":"Kono S, Yoshida K, Tomosugi N, Terada T, Hamaya Y, Kanaoka S, Miyajima H (2010) Biological effects of mutant ceruloplasmin on hepcidin-mediated internalization of ferroportin. Biochim Biophys Acta 1802(11):968\u2013975. https:\/\/doi.org\/10.1016\/j.bbadis.2010.07.011","journal-title":"Biochim Biophys Acta"},{"issue":"5","key":"10_CR25","doi-asserted-by":"publisher","first-page":"674","DOI":"10.1111\/j.1365-2141.2004.04950.x","volume":"125","author":"G Le Gac","year":"2004","unstructured":"Le Gac G, Mons F, Jacolot S, Scotet V, Ferec C, Frebourg T (2004) Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent. Br J Haematol 125(5):674\u2013678","journal-title":"Br J Haematol"},{"issue":"4","key":"10_CR26","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, Loreal O, Deugnier Y, Brissot P, Jouanolle AM (2011) Sex and acquired cofactors determine phenotypes of ferroportin disease. Gastroenterology 140(4):1199\u20131207. e1192. https:\/\/doi.org\/10.1053\/j.gastro.2010.12.049","journal-title":"Gastroenterology"},{"key":"10_CR27","doi-asserted-by":"publisher","first-page":"75","DOI":"10.3389\/fnins.2019.00075","volume":"13","author":"JV Llorens","year":"2019","unstructured":"Llorens JV, Soriano S, Calap-Quintana P, Gonzalez-Cabo P, Molto MD (2019) The role of iron in Friedreich\u2019s ataxia: insights from studies in human tissues and cellular and animal models. Front Neurosci 13:75. https:\/\/doi.org\/10.3389\/fnins.2019.00075","journal-title":"Front Neurosci"},{"key":"10_CR28","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1016\/j.cca.2021.09.009","volume":"523","author":"MG Manake","year":"2021","unstructured":"Manake MG, Ramatlho P, Ntereke TD, Tawe L, Bango ZA, Quaye IK, Paganotti GM, Kasvosve I (2021) Similar Ferroportin Q248H polymorphism prevalence in patients with plasmodium falciparum malaria and control subjects in the low-endemic setting of Botswana. Clin Chim Acta 523:77\u201380. https:\/\/doi.org\/10.1016\/j.cca.2021.09.009","journal-title":"Clin Chim Acta"},{"issue":"3","key":"10_CR30","doi-asserted-by":"publisher","first-page":"1337","DOI":"10.1182\/blood-2004-07-2966","volume":"105","author":"MP Mims","year":"2005","unstructured":"Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT (2005) Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. Blood 105(3):1337\u20131342. https:\/\/doi.org\/10.1182\/blood-2004-07-2966","journal-title":"Blood"},{"key":"10_CR31","unstructured":"Miyajima H (1993) Aceruloplasminemia. In: Pagon RA, Bird TD, Dolan CR, Stephens K (eds) Gene Reviews, Seattle"},{"issue":"1","key":"10_CR32","doi-asserted-by":"publisher","first-page":"83","DOI":"10.1111\/neup.12149","volume":"35","author":"H Miyajima","year":"2015","unstructured":"Miyajima H (2015) Aceruloplasminemia. Neuropathology 35(1):83\u201390. https:\/\/doi.org\/10.1111\/neup.12149","journal-title":"Neuropathology"},{"issue":"5","key":"10_CR33","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1212\/WNL.37.5.761","volume":"37","author":"H Miyajima","year":"1987","unstructured":"Miyajima H, Nishimura Y, Mizoguchi K, Sakamoto M, Shimizu T, Honda N (1987) Familial apoceruloplasmin deficiency associated with blepharospasm and retinal degeneration. Neurology 37(5):761\u2013767","journal-title":"Neurology"},{"issue":"1","key":"10_CR34","doi-asserted-by":"publisher","first-page":"205","DOI":"10.1023\/A:1020775101654","volume":"16","author":"H Miyajima","year":"2003","unstructured":"Miyajima H, Takahashi Y, Kono S (2003) Aceruloplasminemia, an inherited disorder of iron metabolism. Biometals 16(1):205\u2013213","journal-title":"Biometals"},{"issue":"14","key":"10_CR35","doi-asserted-by":"publisher","first-page":"1755","DOI":"10.2169\/internalmedicine.4178-19","volume":"59","author":"Z Miyake","year":"2020","unstructured":"Miyake Z, Nakamagoe K, Yoshida K, Kondo T, Tamaoka A (2020) Deferasirox might be effective for microcytic anemia and neurological symptoms associated with Aceruloplasminemia: a case report and review of the literature. Intern Med 59(14):1755\u20131761. https:\/\/doi.org\/10.2169\/internalmedicine.4178-19","journal-title":"Intern Med"},{"issue":"9","key":"10_CR36","doi-asserted-by":"publisher","first-page":"1418","DOI":"10.1182\/blood.2021013519","volume":"139","author":"L Muckenthaler","year":"2022","unstructured":"Muckenthaler L, Marques O, Colucci S, Kunz J, Fabrowski P, Bast T, Altamura S, Hochsmann B, Schrezenmeier H, Langlotz M, Richter-Pechanska P, Rausch T, Hofmeister-Mielke N, Gunkel N, Hentze MW, Kulozik AE, Muckenthaler MU (2022) Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction. Blood 139(9):1418\u20131422. https:\/\/doi.org\/10.1182\/blood.2021013519","journal-title":"Blood"},{"issue":"9","key":"10_CR37","doi-asserted-by":"publisher","first-page":"eaaw0109","DOI":"10.1126\/sciadv.aaw0109","volume":"5","author":"JM Muriuki","year":"2019","unstructured":"Muriuki JM, Mentzer AJ, Band G, Gilchrist JJ, Carstensen T, Lule SA, Goheen MM, Joof F, Kimita W, Mogire R, Cutland CL, Diarra A, Rautanen A, Pomilla C, Gurdasani D, Rockett K, Mturi N, Ndungu FM, Scott JAG, Sirima SB, Morovat A, Prentice AM, Madhi SA, Webb EL, Elliott AM, Bejon P, Sandhu MS, Hill AVS, Kwiatkowski DP, Williams TN, Cerami C, Atkinson SH (2019) The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia. Sci Adv 5(9):eaaw0109. https:\/\/doi.org\/10.1126\/sciadv.aaw0109","journal-title":"Sci Adv"},{"issue":"3","key":"10_CR38","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(3):213\u2013214","journal-title":"Nat Genet"},{"issue":"1","key":"10_CR39","doi-asserted-by":"publisher","first-page":"5686","DOI":"10.1038\/s41467-020-19458-6","volume":"11","author":"Y Pan","year":"2020","unstructured":"Pan Y, Ren Z, Gao S, Shen J, Wang L, Xu Z, Yu Y, Bachina P, Zhang H, Fan X, Laganowsky A, Yan N, Zhou M (2020) Structural basis of ion transport and inhibition in ferroportin. Nat Commun 11(1):5686. https:\/\/doi.org\/10.1038\/s41467-020-19458-6","journal-title":"Nat Commun"},{"issue":"1","key":"10_CR40","doi-asserted-by":"publisher","first-page":"77","DOI":"10.1038\/ng1274","volume":"36","author":"G Papanikolaou","year":"2004","unstructured":"Papanikolaou G, Samuels ME, Ludwig EH, MacDonald ML, Franchini PL, Dube MP, Andres L, MacFarlane J, Sakellaropoulos N, Politou M, Nemeth E, Thompson J, Risler JK, Zaborowska C, Babakaiff R, Radomski CC, Pape TD, Davidas O, Christakis J, Brissot P, Lockitch G, Ganz T, Hayden MR, Goldberg YP (2004) Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet 36(1):77\u201382","journal-title":"Nat Genet"},{"issue":"11","key":"10_CR41","doi-asserted-by":"publisher","first-page":"7806","DOI":"10.1074\/jbc.M008922200","volume":"276","author":"CH Park","year":"2001","unstructured":"Park CH, Valore EV, Waring AJ, Ganz T (2001) Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem 276(11):7806\u20137810","journal-title":"J Biol Chem"},{"issue":"1","key":"10_CR42","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 (2004a) The ferroportin disease. Blood Cells Mol Dis 32(1):131\u2013138","journal-title":"Blood Cells Mol Dis"},{"issue":"1","key":"10_CR43","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1002\/hep.20007","volume":"39","author":"A Pietrangelo","year":"2004","unstructured":"Pietrangelo A (2004b) Non-HFE hemochromatosis. Hepatology 39(1):21\u201329","journal-title":"Hepatology"},{"issue":"12","key":"10_CR44","doi-asserted-by":"publisher","first-page":"1972","DOI":"10.3324\/haematol.2017.170720","volume":"102","author":"A Pietrangelo","year":"2017","unstructured":"Pietrangelo A (2017) The ferroportin disease: pathogenesis, diagnosis and treatment. Haematologica 102(12):1972\u20131984. https:\/\/doi.org\/10.3324\/haematol.2017.170720","journal-title":"Haematologica"},{"issue":"10","key":"10_CR45","doi-asserted-by":"publisher","first-page":"725","DOI":"10.1056\/NEJM199909023411003","volume":"341","author":"A Pietrangelo","year":"1999","unstructured":"Pietrangelo A, Montosi G, Totaro A, Garuti C, Conte D, Cassanelli S, Fraquelli M, Sardini C, Vasta F, Gasparini P (1999) Hereditary hemochromatosis in adults without pathogenic mutations in the hemochromatosis gene. N Engl J Med 341(10):725\u2013732. https:\/\/doi.org\/10.1056\/NEJM199909023411003","journal-title":"N Engl J Med"},{"issue":"2","key":"10_CR46","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1053\/j.gastro.2004.11.057","volume":"128","author":"A Pietrangelo","year":"2005","unstructured":"Pietrangelo A, Caleffi A, Henrion J, Ferrara F, Corradini E, Kulaksiz H, Stremmel W, Andreone P, Garuti C (2005) Juvenile hemochromatosis associated with pathogenic mutations of adult hemochromatosis genes. Gastroenterology 128(2):470\u2013479","journal-title":"Gastroenterology"},{"issue":"3","key":"10_CR47","doi-asserted-by":"publisher","first-page":"192","DOI":"10.1016\/j.bcmd.2006.08.007","volume":"37","author":"A Pietrangelo","year":"2006","unstructured":"Pietrangelo A, Corradini E, Ferrara F, Vegetti A, De Jong G, Luca Abbati G, Paolo Arcuri P, Martinelli S, Cerofolini E (2006) Magnetic resonance imaging to identify classic and nonclassic forms of ferroportin disease. Blood Cells Mol Dis 37(3):192\u2013196","journal-title":"Blood Cells Mol Dis"},{"issue":"11","key":"10_CR48","doi-asserted-by":"publisher","first-page":"7811","DOI":"10.1074\/jbc.M008923200","volume":"276","author":"C Pigeon","year":"2001","unstructured":"Pigeon C, Ilyin G, Courselaud B, Leroyer P, Turlin B, Brissot P, Loreal O (2001) A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload. J Biol Chem 276(11):7811\u20137819","journal-title":"J Biol Chem"},{"key":"10_CR49","doi-asserted-by":"publisher","first-page":"903","DOI":"10.3389\/fnins.2018.00903","volume":"12","author":"A Piperno","year":"2018","unstructured":"Piperno A, Alessio M (2018) Aceruloplasminemia: waiting for an efficient therapy. Front Neurosci 12:903. https:\/\/doi.org\/10.3389\/fnins.2018.00903","journal-title":"Front Neurosci"},{"key":"10_CR50","doi-asserted-by":"publisher","first-page":"25","DOI":"10.21037\/tgh.2019.11.15","volume":"5","author":"A Piperno","year":"2020","unstructured":"Piperno A, Pelucchi S, Mariani R (2020) Inherited iron overload disorders. Transl Gastroenterol Hepatol 5:25. https:\/\/doi.org\/10.21037\/tgh.2019.11.15","journal-title":"Transl Gastroenterol Hepatol"},{"issue":"1","key":"10_CR51","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1182\/blood-2006-02-003962","volume":"108","author":"D Pospisilova","year":"2006","unstructured":"Pospisilova D, Mims MP, Nemeth E, Ganz T, Prchal JT (2006) DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis. Blood 108(1):404\u2013405. https:\/\/doi.org\/10.1182\/blood-2006-02-003962","journal-title":"Blood"},{"issue":"1","key":"10_CR52","doi-asserted-by":"publisher","first-page":"74","DOI":"10.1097\/MPH.0b013e3181fd2aae","volume":"33","author":"N Radhakrishnan","year":"2011","unstructured":"Radhakrishnan N, Yadav SP, Sachdeva A, Pruthi PK, Sawhney S, Piplani T, Wada T, Yachie A (2011) Human heme oxygenase-1 deficiency presenting with hemolysis, nephritis, and asplenia. J Pediatr Hematol Oncol 33(1):74\u201378. https:\/\/doi.org\/10.1097\/MPH.0b013e3181fd2aae","journal-title":"J Pediatr Hematol Oncol"},{"issue":"1","key":"10_CR53","doi-asserted-by":"publisher","first-page":"21","DOI":"10.1038\/ng1053","volume":"33","author":"A Roetto","year":"2003","unstructured":"Roetto A, Papanikolaou G, Politou M, Alberti F, Girelli D, Christakis J, Loukopoulos D, Camaschella C (2003) Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis. Nat Genet 33(1):21\u201322","journal-title":"Nat Genet"},{"key":"10_CR053","doi-asserted-by":"publisher","unstructured":"Rouault TA (2013) Iron metabolism in the CNS: implications for neurodegenerative diseases. Nat Rev Neuroscience14(8):551\u2013564. https:\/\/doi.org\/10.1038\/nrn3453","DOI":"10.1038\/nrn3453"},{"issue":"5","key":"10_CR54","doi-asserted-by":"publisher","first-page":"1512","DOI":"10.1002\/hep.29007","volume":"65","author":"M Sabelli","year":"2017","unstructured":"Sabelli M, Montosi G, Garuti C, Caleffi A, Oliveto S, Biffo S, Pietrangelo A (2017) Human macrophage ferroportin biology and the basis for the ferroportin disease. Hepatology 65(5):1512\u20131525. https:\/\/doi.org\/10.1002\/hep.29007","journal-title":"Hepatology"},{"issue":"1","key":"10_CR55","doi-asserted-by":"publisher","first-page":"101","DOI":"10.1182\/blood-2018-02-830562","volume":"132","author":"K Sandhu","year":"2018","unstructured":"Sandhu K, Flintoff K, Chatfield MD, Dixon JL, Ramm LE, Ramm GA, Powell LW, Subramaniam VN, Wallace DF (2018) Phenotypic analysis of hemochromatosis subtypes reveals variations in severity of iron overload and clinical disease. Blood 132(1):101\u2013110. https:\/\/doi.org\/10.1182\/blood-2018-02-830562","journal-title":"Blood"},{"issue":"9","key":"10_CR56","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1182\/blood.2021014935","volume":"139","author":"AU Steinbicker","year":"2022","unstructured":"Steinbicker AU (2022) PIGA mutations (can) cause juvenile hemochromatosis. Blood 139(9):1273\u20131275. https:\/\/doi.org\/10.1182\/blood.2021014935","journal-title":"Blood"},{"key":"10_CR57","doi-asserted-by":"publisher","first-page":"1279826","DOI":"10.3389\/fimmu.2023.1279826","volume":"14","author":"I Ullah","year":"2023","unstructured":"Ullah I, Lang M (2023) Key players in the regulation of iron homeostasis at the host-pathogen interface. Front Immunol 14:1279826. https:\/\/doi.org\/10.3389\/fimmu.2023.1279826","journal-title":"Front Immunol"},{"key":"10_CR58","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.jtemb.2015.01.002","volume":"30","author":"S Unal","year":"2015","unstructured":"Unal S, Piperno A, Gumruk F (2015) Iron chelation with deferasirox in a patient with de-novo ferroportin mutation. J Trace Elem Med Biol 30:1\u20133. https:\/\/doi.org\/10.1016\/j.jtemb.2015.01.002","journal-title":"J Trace Elem Med Biol"},{"key":"10_CR59","doi-asserted-by":"publisher","unstructured":"Vila Cuenca M, Marchi G, Barque A, Esteban-Jurado C, Marchetto A, Giorgetti A, Chelban V, Houlden H, Wood NW, Piubelli C, Dorigatti Borges M, Martins de Albuquerque D, Yotsumoto Fertrin K, Jove-Buxeda E, Sanchez-Delgado J, Baena-Diez N, Burnyte B, Utkus A, Busti F, Kaubrys G, Suku E, Kowalczyk K, Karaszewski B, Porter JB, Pollard S, Eleftheriou P, Bignell P, Girelli D, Sanchez M (2020) Genetic and clinical heterogeneity in thirteen new cases with Aceruloplasminemia. Atypical anemia as a clue for an early diagnosis. Int J Mol Sci 21(7). https:\/\/doi.org\/10.3390\/ijms21072374","DOI":"10.3390\/ijms21072374"},{"issue":"8","key":"10_CR60","doi-asserted-by":"publisher","first-page":"993","DOI":"10.1111\/dme.12712","volume":"32","author":"LH Vroegindeweij","year":"2015","unstructured":"Vroegindeweij LH, van der Beek EH, Boon AJ, Hoogendoorn M, Kievit JA, Wilson JH, Langendonk JG (2015) Aceruloplasminemia presents as type 1 diabetes in non-obese adults: a detailed case series. Diabet Med 32(8):993\u20131000. https:\/\/doi.org\/10.1111\/dme.12712","journal-title":"Diabet Med"},{"issue":"6","key":"10_CR61","doi-asserted-by":"publisher","first-page":"618","DOI":"10.1038\/gim.2015.140","volume":"18","author":"DF Wallace","year":"2016","unstructured":"Wallace DF, Subramaniam VN (2016) The global prevalence of HFE and non-HFE hemochromatosis estimated from analysis of next-generation sequencing data. Genet Med 18(6):618\u2013626. https:\/\/doi.org\/10.1038\/gim.2015.140","journal-title":"Genet Med"},{"issue":"4","key":"10_CR62","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1016\/j.jhep.2003.12.008","volume":"40","author":"DF Wallace","year":"2004","unstructured":"Wallace DF, Clark RM, Harley HA, Subramaniam VN (2004) Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis. J Hepatol 40(4):710\u2013713","journal-title":"J Hepatol"},{"issue":"10","key":"10_CR63","doi-asserted-by":"publisher","DOI":"10.1371\/journal.ppat.1011679","volume":"19","author":"SK Wideman","year":"2023","unstructured":"Wideman SK, Frost JN, Richter FC, Naylor C, Lopes JM, Viveiros N, Teh MR, Preston AE, White N, Yusuf S, Draper SJ, Armitage AE, Duarte TL, Drakesmith H (2023) Cellular iron governs the host response to malaria. PLoS Pathog 19(10):e1011679. https:\/\/doi.org\/10.1371\/journal.ppat.1011679","journal-title":"PLoS Pathog"},{"issue":"6383","key":"10_CR64","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, Greutelaers 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(6383):1520\u20131523. https:\/\/doi.org\/10.1126\/science.aal2022","journal-title":"Science"},{"issue":"11","key":"10_CR65","doi-asserted-by":"publisher","first-page":"luae196","DOI":"10.1210\/jcemcr\/luae196","volume":"2","author":"KA Zinecker","year":"2024","unstructured":"Zinecker KA, Sliwinska A, Wilson LM, Zahr R (2024) Juvenile hemochromatosis connecting cardiac arrest and hypogonadotropic hypogonadism in a young woman. JCEM Case Rep 2(11):luae196. https:\/\/doi.org\/10.1210\/jcemcr\/luae196","journal-title":"JCEM Case Rep"}],"container-title":["Advances in Experimental Medicine and Biology","Iron Metabolism in Human Health and Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-3-031-92033-2_10","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T18:54:11Z","timestamp":1776797651000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-3-031-92033-2_10"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025]]},"ISBN":["9783031920325","9783031920332"],"references-count":65,"URL":"https:\/\/doi.org\/10.1007\/978-3-031-92033-2_10","relation":{},"ISSN":["0065-2598","2214-8019"],"issn-type":[{"value":"0065-2598","type":"print"},{"value":"2214-8019","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025]]},"assertion":[{"value":"3 July 2025","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}