{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T23:02:59Z","timestamp":1789599779223,"version":"build-2803163510"},"reference-count":21,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,2,1]],"date-time":"2025-02-01T00:00:00Z","timestamp":1738368000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,11,7]],"date-time":"2024-11-07T00:00:00Z","timestamp":1730937600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001665","name":"ANR","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001665","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Blood Cells, Molecules, and Diseases"],"published-print":{"date-parts":[[2025,2]]},"DOI":"10.1016\/j.bcmd.2024.102898","type":"journal-article","created":{"date-parts":[[2024,11,2]],"date-time":"2024-11-02T17:27:29Z","timestamp":1730568449000},"page":"102898","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":1,"special_numbering":"C","title":["Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1)"],"prefix":"10.1016","volume":"110","author":[{"given":"Alexandre","family":"Raynor","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katell","family":"Peoc'h","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Camille","family":"Boi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hana","family":"Manceau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Pissard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karim","family":"Diallo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Kannengiesser","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pierre","family":"Rohrlich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"6","key":"10.1016\/j.bcmd.2024.102898_bb0005","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1016\/j.pcl.2013.08.008","article-title":"Thalassemias","volume":"60","author":"Martin","year":"2013","journal-title":"Pediatr. Clin. North Am."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102898_bb0010","doi-asserted-by":"crossref","first-page":"12","DOI":"10.1111\/bjh.12081","article-title":"How I manage patients with atypical microcytic anaemia","volume":"160","author":"Camaschella","year":"2013","journal-title":"Br. J. Haematol."},{"issue":"6","key":"10.1016\/j.bcmd.2024.102898_bb0015","doi-asserted-by":"crossref","first-page":"840","DOI":"10.3324\/haematol.2008.001867","article-title":"Matriptase-2 (TMPRSS6): a proteolytic regulator of iron homeostasis","volume":"94","author":"Ramsay","year":"2009","journal-title":"Haematologica"},{"issue":"5","key":"10.1016\/j.bcmd.2024.102898_bb0020","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."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102898_bb0025","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1182\/blood-2018-08-815951","article-title":"The molecular genetics of sideroblastic anemia","volume":"133","author":"Ducamp","year":"2019","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102898_bb0030","doi-asserted-by":"crossref","first-page":"1665","DOI":"10.1172\/JCI78619","article-title":"X-linked macrocytic dyserythropoietic anemia in females with an ALAS2 mutation","volume":"125","author":"Sankaran","year":"2015","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.bcmd.2024.102898_bb0035","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1016\/j.freeradbiomed.2018.07.020","article-title":"DMT1 and iron transport","volume":"133","author":"Yanatori","year":"2019","journal-title":"Free Radic. Biol. Med."},{"issue":"8","key":"10.1016\/j.bcmd.2024.102898_bb0040","doi-asserted-by":"crossref","first-page":"4406","DOI":"10.3390\/ijms23084406","article-title":"New cases of hypochromic microcytic anemia due to mutations in the SLC11A2 gene and functional characterization of the G75R mutation","volume":"23","author":"Romero-Cortadellas","year":"2022","journal-title":"Int. J. Mol. Sci."},{"issue":"1","key":"10.1016\/j.bcmd.2024.102898_bb0045","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1182\/blood-2005-06-2477","article-title":"Microcytic anemia and hepatic iron overload in a child with compound heterozygous mutations in DMT1 (SCL11A2)","volume":"107","author":"Iolascon","year":"2006","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102898_bb0050","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."},{"issue":"2","key":"10.1016\/j.bcmd.2024.102898_bb0055","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.bcmd.2009.05.003","article-title":"Not all DMT1 mutations lead to iron overload","volume":"43","author":"Blanco","year":"2009","journal-title":"Blood Cells Mol. Dis."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102898_bb0060","doi-asserted-by":"crossref","first-page":"E58","DOI":"10.1002\/ajh.24988","article-title":"Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload","volume":"93","author":"Casale","year":"2018","journal-title":"Am. J. Hematol."},{"issue":"10","key":"10.1016\/j.bcmd.2024.102898_bb0065","doi-asserted-by":"crossref","first-page":"4168","DOI":"10.1182\/blood-2005-10-4269","article-title":"Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload","volume":"107","author":"Beaumont","year":"2006","journal-title":"Blood"},{"issue":"4","key":"10.1016\/j.bcmd.2024.102898_bb0070","doi-asserted-by":"crossref","first-page":"514","DOI":"10.1111\/j.1365-2141.2012.09043.x","article-title":"The homozygous mutation G75R in the human SLC11A2 gene leads to microcytic anaemia and iron overload","volume":"157","author":"Barrios","year":"2012","journal-title":"Br. J. Haematol."},{"issue":"4","key":"10.1016\/j.bcmd.2024.102898_bb0075","doi-asserted-by":"crossref","first-page":"492","DOI":"10.1111\/bjh.12062","article-title":"Identification and characterization of the first SLC11A2 isoform 1a mutation causing a defect in splicing process and an hypomorphic allele expression of the SLC11A2 gene","volume":"159","author":"De Falco","year":"2012","journal-title":"Br. J. Haematol."},{"issue":"10","key":"10.1016\/j.bcmd.2024.102898_bb0080","doi-asserted-by":"crossref","first-page":"3991","DOI":"10.1182\/blood-2004-01-0225","article-title":"Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells","volume":"103","author":"Priwitzerova","year":"2004","journal-title":"Blood"},{"issue":"3","key":"10.1016\/j.bcmd.2024.102898_bb0085","doi-asserted-by":"crossref","first-page":"347","DOI":"10.1016\/j.bcmd.2006.01.011","article-title":"A novel R416C mutation in human DMT1 (SLC11A2) displays pleiotropic effects on function and causes microcytic anemia and hepatic iron overload","volume":"36","author":"Lam-Yuk-Tseung","year":"2006","journal-title":"Blood Cells Mol. Dis."},{"issue":"9","key":"10.1016\/j.bcmd.2024.102898_bb0090","doi-asserted-by":"crossref","first-page":"3699","DOI":"10.1182\/blood-2002-07-2108","article-title":"Iron transport by Nramp2\/DMT1: pH regulation of transport by 2 histidines in transmembrane domain 6","volume":"101","author":"Lam-Yuk-Tseung","year":"2003","journal-title":"Blood"},{"issue":"5","key":"10.1016\/j.bcmd.2024.102898_bb0095","first-page":"405","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards","year":"2015","journal-title":"Genet Med Off J Am Coll Med Genet."},{"issue":"3","key":"10.1016\/j.bcmd.2024.102898_bb0100","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"},{"issue":"1","key":"10.1016\/j.bcmd.2024.102898_bb0105","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1182\/blood-2006-02-003962","article-title":"DMT1 mutation: response of anemia to darbepoetin administration and implications for iron homeostasis","volume":"108","author":"Pospisilova","year":"2006","journal-title":"Blood"}],"container-title":["Blood Cells, Molecules, and Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979624000767?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1079979624000767?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,11,22]],"date-time":"2024-11-22T19:02:18Z","timestamp":1732302138000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1079979624000767"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,2]]},"references-count":21,"alternative-id":["S1079979624000767"],"URL":"https:\/\/doi.org\/10.1016\/j.bcmd.2024.102898","relation":{},"ISSN":["1079-9796"],"issn-type":[{"value":"1079-9796","type":"print"}],"subject":[],"published":{"date-parts":[[2025,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Marked microcytosis and increased transferrin saturation: Think about variants in SLC11A2 (DMT1)","name":"articletitle","label":"Article Title"},{"value":"Blood Cells, Molecules, and Diseases","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.bcmd.2024.102898","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 The Authors. Published by Elsevier Inc.","name":"copyright","label":"Copyright"}],"article-number":"102898"}}