{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T00:55:18Z","timestamp":1792803318176,"version":"4.5.0"},"reference-count":104,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2018,7,1]],"date-time":"2018-07-01T00:00:00Z","timestamp":1530403200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"funder":[{"name":"CNRS"},{"DOI":"10.13039\/501100001677","name":"INSERM","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100001677","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100007525","name":"Universit\u00e9 de Rennes 1","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100007525","id-type":"DOI","asserted-by":"crossref"}]},{"name":"AHO (Association H\u00e9mochromatose Ouest)"},{"name":"AFeMERS (Association Fer-M\u00e9taux Essentiels-Recherche-Sant\u00e9)"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Mutation Research\/Reviews in Mutation Research"],"published-print":{"date-parts":[[2018,7]]},"DOI":"10.1016\/j.mrrev.2018.06.003","type":"journal-article","created":{"date-parts":[[2018,6,22]],"date-time":"2018-06-22T14:18:49Z","timestamp":1529677129000},"page":"52-63","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":35,"special_numbering":"C","title":["Rare anemias due to genetic iron metabolism defects"],"prefix":"10.1016","volume":"777","author":[{"given":"Pierre","family":"Brissot","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Delphine G.","family":"Bernard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eolia","family":"Brissot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Olivier","family":"Lor\u00e9al","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-B\u00e9reng\u00e8re","family":"Troadec","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.mrrev.2018.06.003_bib0005","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1016\/bs.mcb.2016.10.008","article-title":"Studying disorders of vertebrate iron and heme metabolism using zebrafish","volume":"138","author":"van der Vorm","year":"2017","journal-title":"Methods Cell Biol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0010","doi-asserted-by":"crossref","first-page":"1130","DOI":"10.1016\/j.bbamcr.2015.01.021","article-title":"Cellular iron uptake, trafficking and metabolism: key molecules and mechanisms and their roles in disease","volume":"1853","author":"Lane","year":"2015","journal-title":"Biochim. Biophys. Acta: BBA \u2013 Mol. Cell Res."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0015","doi-asserted-by":"crossref","first-page":"505","DOI":"10.1016\/j.jhep.2015.11.009","article-title":"Iron metabolism and related genetic diseases: a cleared land, keeping mysteries","volume":"64","author":"Brissot","year":"2016","journal-title":"J. Hepatol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0020","first-page":"51","article-title":"The regulation of iron absorption and homeostasis","volume":"37","author":"Wallace","year":"2016","journal-title":"Clin. Biochem. Rev."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0025","doi-asserted-by":"crossref","first-page":"789","DOI":"10.1016\/j.cell.2005.06.025","article-title":"Identification of an intestinal heme transporter","volume":"122","author":"Shayeghi","year":"2005","journal-title":"Cell"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0030","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1016\/S0021-9258(19)62337-9","article-title":"Stoichiometric and site characteristics of the binding of iron to human transferrin","volume":"253","author":"Aisen","year":"1978","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0035","doi-asserted-by":"crossref","first-page":"2263","DOI":"10.1073\/pnas.80.8.2263","article-title":"Binding of apotransferrin to K562 cells: explanation of the transferrin cycle","volume":"80","author":"Klausner","year":"1983","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0040","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1152\/physrev.1987.67.2.520","article-title":"The physiology of transferrin and transferrin receptors","volume":"67","author":"Huebers","year":"1987","journal-title":"Physiol. Rev."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0045","doi-asserted-by":"crossref","first-page":"812","DOI":"10.1002\/ajh.24417","article-title":"Hematopoietic deletion of transferrin receptor 2 in mice leads to a block in erythroid differentiation during iron-deficient anemia","volume":"91","author":"Rishi","year":"2016","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0050","doi-asserted-by":"crossref","first-page":"1264","DOI":"10.1038\/ng1658","article-title":"Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells","volume":"37","author":"Ohgami","year":"2005","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0055","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/41343","article-title":"Cloning and characterization of a mammalian proton-coupled metal-ion transporter","volume":"388","author":"Gunshin","year":"1997","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0060","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/j.mrrev.2017.09.002","article-title":"The interaction of iron and the genome: for better and for worse","volume":"774","author":"Troadec","year":"2017","journal-title":"Mutat. Res. Mutat. Res."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0065","doi-asserted-by":"crossref","first-page":"776","DOI":"10.1038\/35001596","article-title":"Positional cloning of zebrafish ferroportin1 identifies a conserved vertebrate iron exporter","volume":"403","author":"Donovan","year":"2000","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0070","doi-asserted-by":"crossref","first-page":"714","DOI":"10.1126\/science.279.5351.714","article-title":"Role of ceruloplasmin in cellular iron uptake","volume":"279","author":"Mukhopadhyay","year":"1998","journal-title":"Science"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0075","doi-asserted-by":"crossref","first-page":"7811","DOI":"10.1074\/jbc.M008923200","article-title":"A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload","volume":"276","author":"Pigeon","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0080","doi-asserted-by":"crossref","first-page":"7806","DOI":"10.1074\/jbc.M008922200","article-title":"Hepcidin, a urinary antimicrobial peptide synthesized in the liver","volume":"276","author":"Park","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0085","doi-asserted-by":"crossref","first-page":"8780","DOI":"10.1073\/pnas.151179498","article-title":"Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice","volume":"98","author":"Nicolas","year":"2001","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0090","doi-asserted-by":"crossref","first-page":"126","DOI":"10.3945\/an.116.013961","article-title":"Regulation of the iron homeostatic hormone hepcidin","volume":"8","author":"Sangkhae","year":"2017","journal-title":"Adv. Nutr. Bethesda Md."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0095","doi-asserted-by":"crossref","first-page":"2337","DOI":"10.1172\/JCI67225","article-title":"Iron regulation by hepcidin","volume":"123","author":"Zhao","year":"2013","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0100","doi-asserted-by":"crossref","first-page":"18354","DOI":"10.1074\/jbc.M117.801795","article-title":"Matriptase-2 suppresses hepcidin expression by cleaving multiple components of the hepcidin induction pathway","volume":"292","author":"Wahedi","year":"2017","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0105","doi-asserted-by":"crossref","first-page":"2473","DOI":"10.1089\/ars.2011.4271","article-title":"Mammalian iron homeostasis in health and disease: uptake, storage, transport, and molecular mechanisms of action","volume":"18","author":"Lawen","year":"2012","journal-title":"Antioxid. Redox Signal."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0110","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.cell.2004.08.014","article-title":"Identification of a human heme exporter that is essential for erythropoiesis","volume":"118","author":"Quigley","year":"2004","journal-title":"Cell"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0115","doi-asserted-by":"crossref","first-page":"825","DOI":"10.1126\/science.1151133","article-title":"A heme export protein is required for red blood cell differentiation and iron homeostasis","volume":"319","author":"Keel","year":"2008","journal-title":"Science"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0120","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1182\/blood-2006-08-041830","article-title":"Regulation of protein synthesis by the heme-regulated eIF2\u03b1 kinase: relevance to anemias","volume":"109","author":"Chen","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0125","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1620\/tjem.213.1","article-title":"Heme as a magnificent molecule with multiple missions: heme determines its own fate and governs cellular homeostasis","volume":"213","author":"Furuyama","year":"2007","journal-title":"Tohoku J. Exp. Med."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0130","doi-asserted-by":"crossref","first-page":"10775","DOI":"10.1073\/pnas.0912925107","article-title":"Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol","volume":"107","author":"Richardson","year":"2010","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0135","doi-asserted-by":"crossref","first-page":"26753","DOI":"10.1074\/jbc.R110.119503","article-title":"Iron and porphyrin trafficking in heme biogenesis","volume":"285","author":"Schultz","year":"2010","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0140","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1080\/17474086.2016.1268047","article-title":"Mitochondria and iron: current questions","volume":"10","author":"Paul","year":"2017","journal-title":"Expert Rev. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0145","doi-asserted-by":"crossref","first-page":"958","DOI":"10.1002\/ajh.21872","article-title":"Characterization of mitochondrial ferritin-deficient mice","volume":"85","author":"Bartnikas","year":"2010","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0150","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1038\/nature04512","article-title":"Mitoferrin is essential for erythroid iron assimilation","volume":"440","author":"Shaw","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0155","doi-asserted-by":"crossref","first-page":"5494","DOI":"10.1182\/blood-2010-11-319483","article-title":"Targeted deletion of the mouse Mitoferrin1 gene: from anemia to protoporphyria","volume":"117","author":"Troadec","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0160","doi-asserted-by":"crossref","first-page":"16263","DOI":"10.1073\/pnas.0904519106","article-title":"Abcb10 physically interacts with mitoferrin-1 (Slc25a37) to enhance its stability and function in the erythroid mitochondria","volume":"106","author":"Chen","year":"2009","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0165","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1161\/CIRCRESAHA.113.301552","article-title":"ATP-binding cassette B10 regulates early steps of heme synthesis","volume":"113","author":"Bayeva","year":"2013","journal-title":"Circ. Res."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0170","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1038\/nature05125","article-title":"Identification of a mammalian mitochondrial porphyrin transporter","volume":"443","author":"Krishnamurthy","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0175","doi-asserted-by":"crossref","first-page":"12679","DOI":"10.1074\/jbc.M111.336180","article-title":"ATP-dependent mitochondrial porphyrin importer ABCB6 protects against phenylhydrazine toxicity","volume":"287","author":"Ulrich","year":"2012","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0180","doi-asserted-by":"crossref","first-page":"e37378","DOI":"10.1371\/journal.pone.0037378","article-title":"Shifting the paradigm: the putative mitochondrial protein ABCB6 resides in the lysosomes of cells and in the plasma membrane of erythrocytes","volume":"7","author":"Kiss","year":"2012","journal-title":"PLoS One"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0185","doi-asserted-by":"crossref","first-page":"4569","DOI":"10.1172\/JCI62422","article-title":"The mitochondrial heme exporter FLVCR1b mediates erythroid differentiation","volume":"122","author":"Chiabrando","year":"2012","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0190","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1016\/j.abb.2016.01.010","article-title":"Synthesis, delivery and regulation of eukaryotic heme and Fe\u2013S cluster cofactors","volume":"592","author":"Barupala","year":"2016","journal-title":"Arch. Biochem. Biophys."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0195","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.biochi.2014.01.010","article-title":"Mitochondrial iron\u2013sulfur protein biogenesis and human disease","volume":"100","author":"Stehling","year":"2014","journal-title":"Biochimie"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0200","doi-asserted-by":"crossref","first-page":"280","DOI":"10.1016\/j.ejcb.2015.05.002","article-title":"The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron\u2013sulfur proteins","volume":"94","author":"Lill","year":"2015","journal-title":"Eur. J. Cell Biol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0205","doi-asserted-by":"crossref","first-page":"1491","DOI":"10.1016\/j.bbamcr.2012.05.009","article-title":"The role of mitochondria in cellular iron-sulfur protein biogenesis and iron metabolism","volume":"1823","author":"Lill","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0210","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1007\/s100380050051","article-title":"Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia","volume":"43","author":"Shimada","year":"1998","journal-title":"J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0215","doi-asserted-by":"crossref","first-page":"953","DOI":"10.1093\/hmg\/ddl012","article-title":"The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis","volume":"15","author":"Pondarr\u00e9","year":"2006","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0220","doi-asserted-by":"crossref","first-page":"3256","DOI":"10.1182\/blood.V96.9.3256","article-title":"Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation","volume":"96","author":"Bekri","year":"2000","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0225","doi-asserted-by":"crossref","first-page":"590","DOI":"10.1104\/pp.109.143651","article-title":"An allelic mutant series of ATM3 reveals its key role in the biogenesis of cytosolic iron-sulfur proteins in Arabidopsis","volume":"151","author":"Bernard","year":"2009","journal-title":"Plant Physiol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0230","doi-asserted-by":"crossref","first-page":"3567","DOI":"10.1182\/blood-2006-04-015768","article-title":"Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis","volume":"109","author":"Pondarre","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0235","doi-asserted-by":"crossref","first-page":"1468","DOI":"10.1016\/j.bbamcr.2012.05.010","article-title":"Mammalian iron metabolism and its control by iron regulatory proteins","volume":"1823","author":"Anderson","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0240","doi-asserted-by":"crossref","first-page":"124","DOI":"10.3389\/fphar.2014.00124","article-title":"The physiological functions of iron regulatory proteins in iron homeostasis \u2013 an update","volume":"5","author":"Zhang","year":"2014","journal-title":"Front. Pharmacol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0245","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1111\/j.1365-2141.2008.07290.x","article-title":"Recent advances in the understanding of inherited sideroblastic anaemia","volume":"143","author":"Camaschella","year":"2008","journal-title":"Br. J. Haematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0250","doi-asserted-by":"crossref","first-page":"395","DOI":"10.3324\/haematol.13619","article-title":"Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis","volume":"94","author":"Iolascon","year":"2009","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0255","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/nature03887","article-title":"T\u00fcbingen 2000 screen consortium, deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis","volume":"436","author":"Wingert","year":"2005","journal-title":"Nature"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0260","doi-asserted-by":"crossref","first-page":"1353","DOI":"10.1182\/blood-2007-02-072520","article-title":"The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload","volume":"110","author":"Camaschella","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0265","doi-asserted-by":"crossref","first-page":"1749","DOI":"10.1172\/JCI40372","article-title":"Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts","volume":"120","author":"Ye","year":"2010","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0270","doi-asserted-by":"crossref","first-page":"3552","DOI":"10.1182\/blood-2006-08-041632","article-title":"RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload","volume":"109","author":"Cavadini","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0275","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.1182\/blood-2004-07-2966","article-title":"Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload","volume":"105","author":"Mims","year":"2005","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0280","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1016\/j.bcmd.2011.07.004","article-title":"A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload","volume":"47","author":"Bardou-Jacquet","year":"2011","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0285","doi-asserted-by":"crossref","first-page":"136","DOI":"10.1016\/j.jpeds.2007.08.041","article-title":"Natural history of recessive inheritance of DMT1 mutations","volume":"152","author":"Iolascon","year":"2008","journal-title":"J. Pediatr."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0290","doi-asserted-by":"crossref","first-page":"3457","DOI":"10.1073\/pnas.84.10.3457","article-title":"Tissue distribution and clearance kinetics of non-transferrin-bound iron in the hypotransferrinemic mouse: a rodent model for hemochromatosis","volume":"84","author":"Craven","year":"1987","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0295","doi-asserted-by":"crossref","first-page":"403","DOI":"10.1016\/j.bbagen.2011.07.014","article-title":"Non-transferrin bound iron: a key role in iron overload and iron toxicity","volume":"1820","author":"Brissot","year":"2012","journal-title":"Biochim. Biophys. Acta"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0300","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.3324\/haematol.11377","article-title":"Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia","volume":"92","author":"Trombini","year":"2007","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0305","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1159\/000112726","article-title":"A new case of human atransferrinemia with a previously undescribed mutation in the transferrin gene","volume":"118","author":"Aslan","year":"2007","journal-title":"Acta Haematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0310","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1080\/08880010902973251","article-title":"Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia","volume":"26","author":"Shamsian","year":"2009","journal-title":"Pediatr. Hematol. Oncol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0315","doi-asserted-by":"crossref","first-page":"6660","DOI":"10.1182\/blood-2011-01-329011","article-title":"A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3\/TSAP6 gene","volume":"118","author":"Grandchamp","year":"2011","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0320","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1111\/neup.12149","article-title":"Aceruloplasminemia","volume":"35","author":"Miyajima","year":"2015","journal-title":"Neuropathology"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0325","doi-asserted-by":"crossref","first-page":"2823","DOI":"10.1038\/sj.emboj.7601735","article-title":"Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin","volume":"26","author":"De Domenico","year":"2007","journal-title":"EMBO J."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0330","doi-asserted-by":"crossref","first-page":"1101","DOI":"10.1016\/j.jhep.2010.04.039","article-title":"Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation","volume":"53","author":"Finkenstedt","year":"2010","journal-title":"J. Hepatol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0335","doi-asserted-by":"crossref","first-page":"851","DOI":"10.1016\/S0168-8278(02)00042-9","article-title":"Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights","volume":"36","author":"Lor\u00e9al","year":"2002","journal-title":"J. Hepatol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0340","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1007\/s10072-016-2756-x","article-title":"Is aceruloplasminemia treatable? Combining iron chelation and fresh-frozen plasma treatment","volume":"38","author":"Poli","year":"2017","journal-title":"Neurol. Sci."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0345","doi-asserted-by":"crossref","first-page":"e205","DOI":"10.1097\/MPG.0000000000000648","article-title":"Pediatric ferroportin disease","volume":"63","author":"Galicia-Poblet","year":"2016","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0350","doi-asserted-by":"crossref","first-page":"1199","DOI":"10.1053\/j.gastro.2010.12.049","article-title":"Sex and acquired cofactors determine phenotypes of ferroportin disease","volume":"140","author":"Le Lan","year":"2011","journal-title":"Gastroenterology"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0355","doi-asserted-by":"crossref","first-page":"1512","DOI":"10.1002\/hep.29007","article-title":"Human macrophage ferroportin biology and the basis for the ferroportin disease","volume":"65","author":"Sabelli","year":"2017","journal-title":"Hepatol. Baltim. Md."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0360","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jtemb.2015.01.002","article-title":"Iron chelation with deferasirox in a patient with de-novo ferroportin mutation","volume":"30","author":"Unal","year":"2015","journal-title":"J. Trace Elem. Med. Biol. Organ. Soc. Min. Trace Elem. GMS"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0365","doi-asserted-by":"crossref","first-page":"1996","DOI":"10.1182\/blood-2002-07-2006","article-title":"Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia","volume":"101","author":"Cazzola","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0370","doi-asserted-by":"crossref","first-page":"244","DOI":"10.1038\/3049","article-title":"Positional cloning of the zebrafish sauternes gene: a model for congenital sideroblastic anaemia","volume":"20","author":"Brownlie","year":"1998","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0375","doi-asserted-by":"crossref","first-page":"678","DOI":"10.1038\/ng.2996","article-title":"Identification of erythr oferrone as an erythroid regulator of iron metabolism","volume":"46","author":"Kautz","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0380","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1016\/j.bcmd.2017.07.003","article-title":"Non syndromic childhood onset congenital sideroblastic anemia: a report of 13 patients identified with an ALAS2 or SLC25A38 mutation","volume":"66","author":"Le Rouzic","year":"2017","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0385","doi-asserted-by":"crossref","first-page":"273","DOI":"10.1002\/pbc.22244","article-title":"Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations","volume":"54","author":"Bergmann","year":"2010","journal-title":"Pediatr. Blood Cancer"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0390","doi-asserted-by":"crossref","first-page":"651","DOI":"10.1038\/ng.359","article-title":"Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia","volume":"41","author":"Guernsey","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0395","doi-asserted-by":"crossref","first-page":"808","DOI":"10.3324\/haematol.2010.039164","article-title":"Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia","volume":"96","author":"Kannengiesser","year":"2011","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0400","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.3324\/haematol.12597","article-title":"Congenital sideroblastic anemia associated with germline polymorphisms reducing expression of FECH","volume":"93","author":"Caudill","year":"2008","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0405","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1093\/hmg\/8.5.743","article-title":"Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA\/A)","volume":"8","author":"Allikmets","year":"1999","journal-title":"Hum. Mol. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0410","doi-asserted-by":"crossref","first-page":"730","DOI":"10.1016\/j.ejpn.2012.02.003","article-title":"X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation","volume":"16","author":"D\u2019Hooghe","year":"2012","journal-title":"Eur. J. Paediatr. Neurol. EJPN"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0415","doi-asserted-by":"crossref","first-page":"1303","DOI":"10.1086\/421530","article-title":"Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA)","volume":"74","author":"Bykhovskaya","year":"2004","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0420","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.ajhg.2010.06.001","article-title":"Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia\u2014MLASA syndrome","volume":"87","author":"Riley","year":"2010","journal-title":"Am. J. Hum. Genet."},{"issue":"June (6)","key":"10.1016\/j.mrrev.2018.06.003_bib0425","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1001\/jamaneurol.2016.4357","article-title":"Clinical features, molecular heterogeneity, and prognostic implications in YARS2-related mitochondrial myopathy","volume":"74","author":"Sommerville","year":"2017","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0430","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/j.ymgme.2014.06.004","article-title":"Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G&A) in the mitochondrial encoded ATP6 gene","volume":"113","author":"Burrage","year":"2014","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0435","doi-asserted-by":"crossref","first-page":"26202","DOI":"10.1038\/srep26202","article-title":"Pseudouridine synthase 1 deficient mice, a model for mitochondrial myopathy with sideroblastic anemia, exhibit muscle morphology and physiology alterations","volume":"6","author":"Mangum","year":"2016","journal-title":"Sci. Rep."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0440","doi-asserted-by":"crossref","first-page":"1593","DOI":"10.1007\/s00431-015-2576-7","article-title":"Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review","volume":"174","author":"Sato","year":"2015","journal-title":"Eur. J. Pediatr."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0445","doi-asserted-by":"crossref","first-page":"2867","DOI":"10.1182\/blood-2014-08-591370","article-title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)","volume":"124","author":"Chakraborty","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0450","doi-asserted-by":"crossref","first-page":"2763","DOI":"10.1182\/blood-2014-09-600197","article-title":"Transfer RNA and syndromic sideroblastic anemia","volume":"124","author":"Iolascon","year":"2014","journal-title":"Blood"},{"issue":"April (4)","key":"10.1016\/j.mrrev.2018.06.003_bib0455","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1136\/annrheumdis-2017-212401","article-title":"Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors","volume":"77","author":"Giannelou","year":"2018","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0460","series-title":"GeneReviews(\u00ae)","article-title":"Thiamine-responsive megaloblastic anemia syndrome","author":"Oishi","year":"1993"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0465","doi-asserted-by":"crossref","first-page":"2734","DOI":"10.1182\/blood-2015-09-659854","article-title":"Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9","volume":"126","author":"Schmitz-Abe","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0470","doi-asserted-by":"crossref","first-page":"1913","DOI":"10.1182\/blood-2016-05-719062","article-title":"A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia","volume":"128","author":"Lichtenstein","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0475","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/ng.405","article-title":"Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II","volume":"41","author":"Schwarz","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0480","doi-asserted-by":"crossref","first-page":"2162","DOI":"10.1182\/blood-2013-05-468223","article-title":"Congenital dyserythropoietic anemias: molecular insights and diagnostic approach","volume":"122","author":"Iolascon","year":"2013","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0485","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1586\/17474086.2016.1131608","article-title":"Diagnosis and management of congenital dyserythropoietic anemias","volume":"9","author":"Gambale","year":"2016","journal-title":"Expert Rev. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0490","doi-asserted-by":"crossref","first-page":"1899","DOI":"10.1182\/blood-2016-06-724328","article-title":"Increased levels of ERFE-encodingFAM132Bin patients with congenital dyserythropoietic anemia type II","volume":"128","author":"Russo","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0495","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1038\/ng.130","article-title":"Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)","volume":"40","author":"Finberg","year":"2008","journal-title":"Nat. Genet."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0500","doi-asserted-by":"crossref","first-page":"845","DOI":"10.3324\/haematol.2012.075515","article-title":"Iron refractory iron deficiency anemia","volume":"98","author":"De Falco","year":"2013","journal-title":"Haematologica"},{"key":"10.1016\/j.mrrev.2018.06.003_bib0505","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1002\/ajh.23929","article-title":"The role of TMPRSS6 polymorphisms in iron deficiency anemia partially responsive to oral iron treatment","volume":"90","author":"Poggiali","year":"2015","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0510","doi-asserted-by":"crossref","first-page":"E482","DOI":"10.1002\/ajh.24561","article-title":"Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory","volume":"91","author":"Donker","year":"2016","journal-title":"Am. J. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0515","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1586\/17474086.2016.1124757","article-title":"Modulation of hepcidin to treat iron deregulation: potential clinical applications","volume":"9","author":"Blanchette","year":"2016","journal-title":"Expert Rev. Hematol."},{"key":"10.1016\/j.mrrev.2018.06.003_bib0520","doi-asserted-by":"crossref","first-page":"2750","DOI":"10.1182\/blood-2014-08-598508","article-title":"Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient","volume":"124","author":"Liu","year":"2014","journal-title":"Blood"}],"container-title":["Mutation Research\/Reviews in Mutation Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574217301163?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1383574217301163?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2022,8,26]],"date-time":"2022-08-26T01:34:24Z","timestamp":1661477664000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1383574217301163"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,7]]},"references-count":104,"alternative-id":["S1383574217301163"],"URL":"https:\/\/doi.org\/10.1016\/j.mrrev.2018.06.003","relation":{},"ISSN":["1383-5742"],"issn-type":[{"value":"1383-5742","type":"print"}],"subject":[],"published":{"date-parts":[[2018,7]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Rare anemias due to genetic iron metabolism defects","name":"articletitle","label":"Article Title"},{"value":"Mutation Research\/Reviews in Mutation Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.mrrev.2018.06.003","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2018 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}