{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:26:48Z","timestamp":1740126408985,"version":"3.37.3"},"reference-count":37,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T00:00:00Z","timestamp":1513036800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Karla and Verner S\u00f8rensens Research Fund"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Vox Sanguinis"],"published-print":{"date-parts":[[2018,2]]},"abstract":"<jats:sec><jats:title>Background and Objectives<\/jats:title><jats:p>Despite the obligate iron loss from blood donation, some donors present with hyperferritinaemia that can result from a wide range of acute and chronic conditions including hereditary haemochromatosis (<jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>). The objective of our study was to investigate the causes of hyperferritinaemia in the blood donor population and explore the value of extensive <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content> mutational analyses.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and Methods<\/jats:title><jats:p>Forty\u2010nine consecutive donors (f = 6, m = 43) were included prospectively from the Capital Regional Blood Center. Inclusion criteria were a single ferritin value &gt;1000 \u03bcg\/l or repeated hyperferritinaemia with at least one value &gt;500 \u03bcg\/l. All donors were questioned about their medical history and underwent a physical examination, biochemical investigations and next\u2010generation sequencing of <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>\u2010related genes, including the <jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content><\/jats:italic> gene, the haemojuvelin gene (<jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content>2\/<jats:styled-content style=\"fixed-case\">HJV<\/jats:styled-content><\/jats:italic>), the hepcidin gene (<jats:italic><jats:styled-content style=\"fixed-case\">HAMP<\/jats:styled-content><\/jats:italic>), the ferroportin 1 gene (<jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>40A1<\/jats:italic>) and the transferrin receptor 2 gene (<jats:italic><jats:styled-content style=\"fixed-case\">TFR<\/jats:styled-content>2<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Forty of 49 donors were mutation positive with a combined 69 mutations, 54 of which were located in the <jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content><\/jats:italic> gene. There were 11 mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">TFR<\/jats:styled-content>2<\/jats:italic> gene, two mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">HFE<\/jats:styled-content>2<\/jats:italic> gene and two mutations in the <jats:italic><jats:styled-content style=\"fixed-case\">HAMP<\/jats:styled-content><\/jats:italic> gene. Only four donors had apparent alternative causes of hyperferritinaemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p><jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>\u2010related mutations were the most frequent cause of hyperferritinaemia in a Danish blood donor population, and it appears that several different <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>\u2010genotypes can contribute to hyperferritinaemia. <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content> screening in blood donors with high ferritin levels could be warranted. <jats:styled-content style=\"fixed-case\">HH<\/jats:styled-content>\u2010related iron overload should not in itself result in donor ineligibility.<\/jats:p><\/jats:sec>","DOI":"10.1111\/vox.12619","type":"journal-article","created":{"date-parts":[[2017,12,12]],"date-time":"2017-12-12T08:38:58Z","timestamp":1513067938000},"page":"110-119","source":"Crossref","is-referenced-by-count":2,"title":["Causes of iron overload in blood donors \u2013 a clinical study"],"prefix":"10.1111","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9500-7488","authenticated-orcid":false,"given":"A. H.","family":"Laursen","sequence":"first","affiliation":[{"name":"Department of Haematology Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O. W.","family":"Bjerrum","sequence":"additional","affiliation":[{"name":"Department of Haematology Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Friis\u2010Hansen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Rigshospitalet Copenhagen Denmark"},{"name":"Department of Clinical Biochemistry Nordsj\u00e6llands Hospital Hillerod Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T. O.","family":"Hansen","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Rigshospitalet Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Marott","sequence":"additional","affiliation":[{"name":"The Copenhagen City Heart Study Frederiksberg Hospital Copenhagen Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Magnussen","sequence":"additional","affiliation":[{"name":"Blood Centre Lab Hvidovre Hospital Hvidovre Denmark"},{"name":"Department of Immunology and Transfusion Medicine Sorlandet hospital Kristiansand Kristiansand Norway"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2017,12,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1537-2995.2011.03148.x"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(15)01315-X"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2015.06.045"},{"key":"e_1_2_8_5_1","doi-asserted-by":"crossref","first-page":"3707","DOI":"10.1182\/blood.V96.12.3707","article-title":"Asymptomatic 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