{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T03:59:50Z","timestamp":1790135990236,"version":"4.0.1"},"reference-count":16,"publisher":"S. Karger AG","issue":"1","license":[{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2012,1,1]],"date-time":"2012-01-01T00:00:00Z","timestamp":1325376000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2012]]},"abstract":"We report on a 46-year-old black man who resided in Alabama with normal transferrin saturation, mild hyperferritinemia, chronic hepatitis C, and 3+ iron in hepatocytes and Kupffer cells. Exome sequencing revealed heterozygosity for <i>SLC40A1<\/i> D270V (exon 7, c.809A\u2192T), a mutation previously reported only in 1 black patient with iron overload who resided in the Republic of South Africa. The present patient was also heterozygous for: heme transporter <i>FLVCR1<\/i> novel allele P542S (exon 10, 1624C\u2192T); <i>FLVCR1<\/i> T544M (rs3207090); hemopexin <i>(HPX)<\/i> R371W (rs75307540); ferritin scavenger receptor <i>(SCARA5)<\/i> R471H (rs61737287); and transferrin receptor <i>(TFRC)<\/i> G420S (rs41295879). He had no <i>HFE, TFR2,<\/i><i>HJV,<\/i> or <i>HAMP <\/i>mutations. D270V was not detected in 19 other African Americans with iron overload who resided in Alabama. The allele frequency of <i>SLC40A1<\/i> D270V in 258 African American adults who participated in a health appraisal clinic was 0.0019 (95% confidence interval 0\u20130.0057). D270V could explain \u2018classical\u2019 ferroportin hemochromatosis phenotypes in some African Americans.<\/jats:p>","DOI":"10.1159\/000337034","type":"journal-article","created":{"date-parts":[[2012,5,15]],"date-time":"2012-05-15T13:31:47Z","timestamp":1337088707000},"page":"28-32","source":"Crossref","is-referenced-by-count":8,"title":["Mild Iron Overload in an African American Man with SLC40A1 D270V"],"prefix":"10.1159","volume":"128","author":[{"given":"Pauline L.","family":"Lee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Terry","family":"Gaasterland","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Barton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2012,5,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1146%2Fannurev.pathol.4.110807.092205"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jhep.2010.05.016"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016%2FS1079-9796%2803%2900165-7"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016%2FS1079-9796%2803%2900164-5"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.21524"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bcmd.2006.12.002"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.bcmd.2007.03.008"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1186%2F1472-6890-5-2"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1006%2Fbcmd.2001.0445"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1007%2Fs00439-004-1166-y"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1111%2Fj.1365-2141.2005.05815.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.jhep.2008.05.028"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1159%2F000181183"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1002%2Fajh.22088"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9343%2899%2980248-4"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016%2FS0002-9343%2896%2900053-8"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/337034","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/337034","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/337034","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:11:39Z","timestamp":1745435499000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000337034"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2012,6,1]]},"published-print":{"date-parts":[[2012,6,28]]}},"URL":"https:\/\/doi.org\/10.1159\/000337034","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"value":"0001-5792","type":"print"},{"value":"1421-9662","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012]]}}}