{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:26:34Z","timestamp":1745468794403,"version":"3.40.4"},"reference-count":54,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2020,12,16]],"date-time":"2020-12-16T00:00:00Z","timestamp":1608076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2021]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Hemochromatosis gene (&lt;i&gt;HFE&lt;\/i&gt;)-associated hereditary hemochromatosis (HH) is characterized by downregulation of hepcidin synthesis, leading to increased intestinal iron absorption. &lt;b&gt;&lt;i&gt;Objectives:&lt;\/i&gt;&lt;\/b&gt; The objectives were to characterize and elucidate a possible association between gene expression profile, hepcidin levels, disease severity, and markers of inflammation in &lt;i&gt;HFE&lt;\/i&gt;-associated HH patients. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; Thirty-nine &lt;i&gt;HFE&lt;\/i&gt;-associated HH patients were recruited and assigned to 2 groups according to genetic profile: C282Y homozygotes in 1 group and patients with H63D, as homozygote or in combination with C282Y, in the other group. Eleven healthy first-time blood donors were recruited as controls. Gene expression was characterized from peripheral blood cells, and inflammatory cytokines and hepcidin-25 isoform were quantified in serum. Biochemical disease characteristics were recorded. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Elevated levels of interleukin 8 were observed in a significant higher proportion of patients than controls. In addition, compared to controls, gene expression of \u03b6-globin was significantly increased among C282Y homozygote patients, while gene expression of matrix metalloproteinase 8, and other neutrophil-secreted proteins, was significantly upregulated in patients with H63D. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Different disease signatures may characterize HH patients according to their &lt;i&gt;HFE&lt;\/i&gt; genetic profile. Studies on larger populations, including analyses at protein level, are necessary to confirm these findings. <\/jats:p>","DOI":"10.1159\/000511551","type":"journal-article","created":{"date-parts":[[2021,3,3]],"date-time":"2021-03-03T07:12:57Z","timestamp":1614755577000},"page":"446-457","source":"Crossref","is-referenced-by-count":3,"title":["Cytokine and Gene Expression Profiling in Patients with &lt;b&gt;&lt;i&gt;HFE&lt;\/i&gt;&lt;\/b&gt;-Associated Hereditary Hemochromatosis according to Genetic Profile"],"prefix":"10.1159","volume":"144","author":[{"given":"Heidi Kristine","family":"Gr\u00f8nlien","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Trine Eker","family":"Christoffersen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Camilla 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