{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T13:10:04Z","timestamp":1790082604732,"version":"4.0.1"},"reference-count":55,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T00:00:00Z","timestamp":1760659200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100004836","name":"Danmarks Frie Forskningsfond","doi-asserted-by":"publisher","award":["0134\u201000352B"],"award-info":[{"award-number":["0134\u201000352B"]}],"id":[{"id":"10.13039\/501100004836","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Br J Haematol"],"published-print":{"date-parts":[[2025,11]]},"abstract":"<jats:title>Summary<\/jats:title>\n                  <jats:p>\n                    The\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    gene encodes divalent metal transporter 1, a key mediator of cellular and intestinal iron transport. While ultra\u2010rare pathogenic variants in\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    cause autosomal recessive anaemia with iron overload, the phenotypic consequences of structural variation in this gene remain unexplored. We investigated the impact of a recently identified structural deletion in the 3\u2032 untranslated region (\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    \u2010\u03943.5kb) using genetic, biomarker and registry data from two large Danish cohorts: the Danish Blood Donor Study and the Copenhagen Hospital Biobank (CHB). Among 4847 heterozygous carriers and 320\u2009633 non\u2010carriers,\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    \u2010\u03943.5kb was associated with lower ferritin levels in both sexes and increased risk of iron deficiency in women. In female donors,\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    \u2010\u03943.5kb was associated with lower haemoglobin levels, increased risk of donation deferral due to low haemoglobin and increased use of prescribed iron treatment. In male CHB participants carrying\n                    <jats:italic>HFE<\/jats:italic>\n                    variants, concurrent\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    \u2010\u03943.5kb carriage was associated with a 66% reduced risk of iron overload, suggesting a potential disease\u2010modifying role in haemochromatosis. No associations were observed with cardiometabolic, inflammatory, neurological or malignant diseases. These findings suggest that\n                    <jats:italic>SLC11A2<\/jats:italic>\n                    \u2010\u03943.5kb affects iron homeostasis through reduced systemic iron availability and may have clinical relevance for personalised iron deficiency risk assessment and haemochromatosis penetrance.\n                  <\/jats:p>","DOI":"10.1111\/bjh.70210","type":"journal-article","created":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T07:01:37Z","timestamp":1760684497000},"page":"2123-2134","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["A structural deletion in the 3\u2032\n                    <scp>UTR<\/scp>\n                    of\n                    <i>SLC11A2<\/i>\n                    is associated with altered iron status: Evidence from two large Danish cohorts"],"prefix":"10.1111","volume":"207","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9912-2806","authenticated-orcid":false,"given":"Nanna","family":"Br\u00f8ns","sequence":"first","affiliation":[{"name":"Department of Clinical Immunology Copenhagen University Hospital\u2014Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andreas Stribolt","family":"Rigas","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology Copenhagen University Hospital\u2014Rigshospitalet  Copenhagen Denmark"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7973-3623","authenticated-orcid":false,"given":"Kathrine Agerg\u00e5rd","family":"Kaspersen","sequence":"additional","affiliation":[{"name":"Department of Clinical Immunology Aarhus University Hospital  Aarhus 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