{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T10:30:00Z","timestamp":1783765800966,"version":"3.55.0"},"reference-count":56,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2009,10,1]],"date-time":"2009-10-01T00:00:00Z","timestamp":1254355200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Seminars in Hematology"],"published-print":{"date-parts":[[2009,10]]},"DOI":"10.1053\/j.seminhematol.2009.07.001","type":"journal-article","created":{"date-parts":[[2009,9,27]],"date-time":"2009-09-27T04:19:04Z","timestamp":1254025144000},"page":"371-377","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":79,"title":["Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment"],"prefix":"10.1053","volume":"46","author":[{"given":"Clara","family":"Camaschella","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1053\/j.seminhematol.2009.07.001_bib1","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1053\/shem.2002.35637","article-title":"The genetics of inherited sideroblastic anemias","volume":"39","author":"Fleming","year":"2002","journal-title":"Semin Hematol"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib2","first-page":"41","article-title":"Congenital sideroblastic anemias","volume":"5","author":"Bottomley","year":"2006","journal-title":"Curr Hematol Rep"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib3","doi-asserted-by":"crossref","first-page":"2079","DOI":"10.1182\/blood.V89.6.2079","article-title":"International scoring system for evaluating prognosis in myelodysplastic syndromes","volume":"89","author":"Greenberg","year":"1997","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib4","doi-asserted-by":"crossref","first-page":"24437","DOI":"10.1074\/jbc.C100141200","article-title":"A human mitochondrial ferritin encoded by an intronless gene","volume":"276","author":"Levi","year":"2001","journal-title":"J Biol Chem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib5","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":"10.1053\/j.seminhematol.2009.07.001_bib6","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1182\/blood-2007-12-077388","article-title":"Forging a field: the golden age of iron biology","volume":"112","author":"Andrews","year":"2008","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib7","doi-asserted-by":"crossref","first-page":"4028","DOI":"10.1073\/pnas.89.9.4028","article-title":"Enzymatic defect in \u201cX-linked\u201d sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency","volume":"89","author":"Cotter","year":"1992","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib8","first-page":"102","article-title":"5-Aminolevulinate synthase: catalysis of the first step of heme biosynthesis","volume":"55","author":"Hunter","year":"2009","journal-title":"Cell Mol Biol"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib9","doi-asserted-by":"crossref","first-page":"406","DOI":"10.1038\/nchembio807","article-title":"The role of iron regulatory proteins in mammalian iron homeostasis and disease","volume":"2","author":"Rouault","year":"2006","journal-title":"Nat Chem Biol"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib10","doi-asserted-by":"crossref","first-page":"698","DOI":"10.1182\/blood-2002-06-1623","article-title":"A promoter mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causes X-linked sideroblastic anemia","volume":"102","author":"Bekri","year":"2003","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib11","doi-asserted-by":"crossref","first-page":"3166","DOI":"10.1038\/sj.emboj.7600792","article-title":"Crystal structure of 5-aminolevulinate synthase, the first enzyme of heme biosynthesis, and its link to XLSA in humans","volume":"24","author":"Astner","year":"2005","journal-title":"EMBO J"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib12","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1056\/NEJM199403103301004","article-title":"X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase","volume":"330","author":"Cox","year":"1994","journal-title":"N Engl J Med"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib13","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1172\/JCI118258","article-title":"Late-onset X-linked sideroblastic anemia","volume":"96","author":"Cotter","year":"1995","journal-title":"J Clin Invest"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib14","first-page":"56","article-title":"The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anemia","volume":"83","author":"May","year":"1998","journal-title":"Hematologica"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib15","doi-asserted-by":"crossref","first-page":"1757","DOI":"10.1182\/blood.V93.5.1757","article-title":"Four new mutations in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene causing X-linked sideroblastic anemia: increased pyridoxine responsiveness after removal of iron overload by phlebotomy and coinheritance of hereditary hemochromatosis","volume":"93","author":"Cotter","year":"1999","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib16","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1182\/blood.V90.2.822","article-title":"Pyridoxine refractory X-linked sideroblastic anemia caused by a point mutation in the erythroid 5-aminolevulinate synthase gene","volume":"90","author":"Furuyama","year":"1997","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib17","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1172\/JCI6816","article-title":"Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia","volume":"105","author":"Furuyama","year":"2000","journal-title":"J Clin Invest"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib18","doi-asserted-by":"crossref","first-page":"408","DOI":"10.1016\/j.ajhg.2008.08.003","article-title":"C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload","volume":"83","author":"Whatley","year":"2008","journal-title":"Am J Hum Genet"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib19","doi-asserted-by":"crossref","first-page":"4363","DOI":"10.1182\/blood.V96.13.4363","article-title":"Familial-skewed X-chromosome inactivation as a predisposing factor for late-onset X-linked sideroblastic anemia in carrier females","volume":"96","author":"Cazzola","year":"2000","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib20","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1182\/blood.V88.1.59.59","article-title":"Nonrandom X-inactivation patterns in normal females: lyonization ratios vary with age","volume":"88","author":"Busque","year":"1996","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib21","doi-asserted-by":"crossref","first-page":"40","DOI":"10.1016\/j.bcmd.2006.04.003","article-title":"X-linked sideroblastic anemia associated with a novel ALAS2 mutation and unfortunate skewed X-chromosome inactivation patterns","volume":"37","author":"Aivado","year":"2006","journal-title":"Blood Cells Mol Dis"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib22","doi-asserted-by":"crossref","DOI":"10.1038\/ng.359","article-title":"Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia","author":"Guernsey","year":"2009","journal-title":"Nat Genet"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib23","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.tig.2008.05.008","article-title":"Iron-sulfur cluster biogenesis and human disease","volume":"24","author":"Rouault","year":"2008","journal-title":"Trends Genet"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib24","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":"10.1053\/j.seminhematol.2009.07.001_bib25","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":"Pondarre","year":"2006","journal-title":"Hum Mol Genet"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib26","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":"10.1053\/j.seminhematol.2009.07.001_bib27","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":"10.1053\/j.seminhematol.2009.07.001_bib28","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 anemia","volume":"143","author":"Camaschella","year":"2008","journal-title":"Br J Hematol"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib29","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1038\/nature03887","article-title":"Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate heme synthesis","volume":"436","author":"Wingert","year":"2005","journal-title":"Nature"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib30","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":"Hematologica"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib31","doi-asserted-by":"crossref","first-page":"669","DOI":"10.1146\/annurev.biochem.76.052705.162653","article-title":"Maturation of iron-sulfur proteins in eukaryotes: mechanisms, connected processes, and diseases","volume":"77","author":"Lill","year":"2008","journal-title":"Ann Rev Biochem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib32","doi-asserted-by":"crossref","first-page":"3274","DOI":"10.1182\/blood-2002-04-1212","article-title":"Involvement of ABC7 in the biosynthesis of heme in erythroid cells: interaction of ABC7 with ferrochelatase","volume":"101","author":"Taketani","year":"2003","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib33","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":"10.1053\/j.seminhematol.2009.07.001_bib34","doi-asserted-by":"crossref","first-page":"e1970","DOI":"10.1371\/journal.pone.0001970","article-title":"The role of the iron transporter ABCB7 in refractory anemia with ring sideroblasts","volume":"3","author":"Boultwood","year":"2008","journal-title":"PLoS ONE"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib35","doi-asserted-by":"crossref","first-page":"2693","DOI":"10.1182\/blood-2006-08-041830","article-title":"Regulation of protein synthesis by the heme-regulated eIF2alpha kinase: relevance to anemias","volume":"109","author":"Chen","year":"2007","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib36","doi-asserted-by":"crossref","first-page":"446","DOI":"10.1111\/j.1365-2141.2008.07358.x","article-title":"Purification and characterization of sideroblasts from patients with acquired and hereditary sideroblastic anemia","volume":"143","author":"Martin","year":"2008","journal-title":"Br J Hematol"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib37","doi-asserted-by":"crossref","first-page":"22430","DOI":"10.1074\/jbc.M105372200","article-title":"Human mitochondrial ferritin expressed in HeLa cells incorporates iron and affects cellular iron metabolism","volume":"277","author":"Corsi","year":"2002","journal-title":"J Biol Chem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib38","doi-asserted-by":"crossref","first-page":"1129","DOI":"10.1369\/jhc.7A7273.2007","article-title":"Mitochondrial ferritin expression in adult mouse tissues","volume":"55","author":"Santambrogio","year":"2007","journal-title":"J Histochem Cytochem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib39","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1182\/blood-2007-01-068148","article-title":"Direct interorganellar transfer of iron from endosome to mitochondrion","volume":"110","author":"Sheftel","year":"2007","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib40","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1093\/jb\/mvh112","article-title":"Role of the heme regulatory motif in the heme-mediated inhibition of mitochondrial import of 5-aminolevulinate synthase","volume":"136","author":"Munakata","year":"2004","journal-title":"J Biochem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib41","doi-asserted-by":"crossref","first-page":"1867","DOI":"10.1182\/blood-2004-10-3856","article-title":"Iron trafficking in the mitochondrion: novel pathways revealed by disease","volume":"105","author":"Napier","year":"2005","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib42","doi-asserted-by":"crossref","first-page":"685","DOI":"10.1111\/j.1365-2443.2006.00973.x","article-title":"Transgenic rescue of erythroid 5-aminolevulinate synthase-deficient mice results in the formation of ring sideroblasts and siderocytes","volume":"11","author":"Nakajima","year":"2006","journal-title":"Genes Cells"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib43","doi-asserted-by":"crossref","first-page":"386","DOI":"10.1038\/sj.emboj.7600041","article-title":"Genetic ablations of iron regulatory proteins 1 and 2 reveal why iron regulatory protein 2 dominates iron homeostasis","volume":"23","author":"Meyron-Holtz","year":"2004","journal-title":"EMBO J"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib44","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/j.molcel.2005.05.027","article-title":"Involvement of heme regulatory motif in heme-mediated ubiquitination and degradation of IRP2","volume":"19","author":"Ishikawa","year":"2005","journal-title":"Mol Cell"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib45","doi-asserted-by":"crossref","first-page":"583","DOI":"10.3324\/haematol.10842","article-title":"Liver iron concentrations and urinary hepcidin in beta-thalassemia","volume":"92","author":"Origa","year":"2007","journal-title":"Hematologica"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib46","doi-asserted-by":"crossref","first-page":"5027","DOI":"10.1182\/blood-2006-09-048868","article-title":"Ineffective erythropoiesis in beta-thalassemia is characterized by increased iron absorption mediated by down-regulation of hepcidin and up-regulation of ferroportin","volume":"109","author":"Gardenghi","year":"2007","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib47","first-page":"1336","article-title":"Liver expression of hepcidin and other iron genes in two mouse models of beta-thalassemia","volume":"91","author":"De Franceschi","year":"2006","journal-title":"Hematologica"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib48","doi-asserted-by":"crossref","first-page":"1096","DOI":"10.1038\/nm1629","article-title":"High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin","volume":"13","author":"Tanno","year":"2007","journal-title":"Nat Med"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib49","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1038\/sj.leu.2404142","article-title":"Flow cytometry evaluation of erythroid dysplasia in patients with myelodysplastic syndrome","volume":"20","author":"Della Porta","year":"2006","journal-title":"Leukemia"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib50","doi-asserted-by":"crossref","first-page":"855","DOI":"10.1182\/blood-2004-01-0177","article-title":"Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance","volume":"105","author":"St Pierre","year":"2005","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib51","doi-asserted-by":"crossref","first-page":"1475","DOI":"10.1016\/S0140-6736(05)63756-7","article-title":"Hemochromatosis Cys282Tyr mutation in pyridoxine-responsive sideroblastic anemia","volume":"349","author":"Yaouanq","year":"1997","journal-title":"Lancet"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib52","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1373\/clinchem.2006.079186","article-title":"Mass spectrometry-based hepcidin measurements in serum and urine: analytical aspects and clinical implications","volume":"53","author":"Kemna","year":"2007","journal-title":"Clin Chem"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib53","doi-asserted-by":"crossref","first-page":"4292","DOI":"10.1182\/blood-2008-02-139915","article-title":"Immunoassay for human serum hepcidin","volume":"112","author":"Ganz","year":"2008","journal-title":"Blood"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib54","doi-asserted-by":"crossref","first-page":"741","DOI":"10.3324\/haematol.12413","article-title":"Italian Society of Hematology practice guidelines for the management of iron overload in thalassemia major and related disorders","volume":"93","author":"Angelucci","year":"2008","journal-title":"Hematologica"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib55","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1038\/bmt.2008.262","article-title":"Iron overload adversely affects outcome of allogeneic hematopoietic cell transplantation","volume":"42","author":"Pullarkat","year":"2008","journal-title":"Bone Marrow Transplant"},{"key":"10.1053\/j.seminhematol.2009.07.001_bib56","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1046\/j.1365-2141.1996.d01-1795.x","article-title":"The effect of iron chelation on hemopoiesis in MDS patients with transfusional iron overload","volume":"94","author":"Jensen","year":"1996","journal-title":"Br J Hematol"}],"container-title":["Seminars in Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196309001048?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0037196309001048?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,22]],"date-time":"2025-09-22T06:19:42Z","timestamp":1758521982000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0037196309001048"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2009,10]]},"references-count":56,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2009,10]]}},"alternative-id":["S0037196309001048"],"URL":"https:\/\/doi.org\/10.1053\/j.seminhematol.2009.07.001","relation":{},"ISSN":["0037-1963"],"issn-type":[{"value":"0037-1963","type":"print"}],"subject":[],"published":{"date-parts":[[2009,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Hereditary Sideroblastic Anemias: Pathophysiology, Diagnosis, and Treatment","name":"articletitle","label":"Article Title"},{"value":"Seminars in Hematology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1053\/j.seminhematol.2009.07.001","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2009 Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}