{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:10:08Z","timestamp":1770883808583,"version":"3.50.1"},"reference-count":41,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,12,18]],"date-time":"2017-12-18T00:00:00Z","timestamp":1513555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2018,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We investigated the role of <jats:italic>HFE<\/jats:italic> C282Y, H63D, and <jats:italic>TMPRSS6<\/jats:italic> A736V variants in the pathogenesis of iron deficiency anemia (IDA) in celiac disease (CD) patients, at diagnosis and after 1\u00a0year of gluten\u2010free diet (GFD). Demographic and clinical features were prospectively recorded for all CD patients between 2013 and 2017. C282Y, H63D, and A736V variants were evaluated for CD patients and controls. Finally, 505 consecutive CD patients and 539 age\u2010matched control subjects were enrolled. At diagnosis, 229 CD subjects had IDA (45.3%), with a subgroup of anemic patients (45.4%) presented persistent IDA at follow\u2010up. C282Y allele frequency was significantly increased in CD compared with controls (1.1% vs 0.2%, <jats:italic>P<\/jats:italic>\u2009=\u2009.001), whereas H63D and A736V allele frequencies were similar among patients and controls (<jats:italic>P<\/jats:italic>\u2009=\u2009.92 and .84, respectively). At diagnosis, C282Y variant in anemic CD patients was significantly increased compared to nonanemic group (2% and 0.5%, <jats:italic>P<\/jats:italic>\u2009=\u2009.04). At follow\u2010up, A736V was significantly increased in IDA persistent than in IDA not persistent (57.7% vs 35.2%, <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.0001). CD patients with H63D mutation showed higher Hb, MCV, serum iron, and ferritin levels than subjects without HFE mutations. Decreased hepcidin values were observed in anemic compared to nonanemic subjects at follow\u2010up (1.22\u2009\u00b1\u20091.14 vs 2.08\u2009\u00b1\u20092.15, <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001). This study suggests a protective role of HFE in IDA CD patients and confirms the role of TMPRSS6 in predicting oral iron response modulating hepcidin action on iron absorption. Iron supplementation therapeutic management in CD could depend on <jats:italic>TMPRSS6<\/jats:italic> genotype that could predict persistent IDA despite iron supplementation and GFD.<\/jats:p>","DOI":"10.1002\/ajh.24991","type":"journal-article","created":{"date-parts":[[2017,12,1]],"date-time":"2017-12-01T09:12:42Z","timestamp":1512119562000},"page":"383-393","source":"Crossref","is-referenced-by-count":29,"title":["The role of <i>TMPRSS6<\/i> and <i>HFE<\/i> variants in iron deficiency anemia in celiac disease"],"prefix":"10.1002","volume":"93","author":[{"given":"Luigia","family":"De Falco","sequence":"first","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies University \u201cFederico II\u201d of Naples Naples Italy"},{"name":"CEINGE, Advanced Biotechnologies Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raffaella","family":"Tortora","sequence":"additional","affiliation":[{"name":"Gastroenterology, Department of Clinical Medicine and Surgery School of Medicine \u201cFederico II\u201d of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3230-6832","authenticated-orcid":false,"given":"Nicola","family":"Imperatore","sequence":"additional","affiliation":[{"name":"Gastroenterology, Department of Clinical Medicine and Surgery School of Medicine \u201cFederico II\u201d of Naples Naples Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariasole","family":"Bruno","sequence":"additional","affiliation":[{"name":"CEINGE, Advanced Biotechnologies Naples Italy"},{"name":"Department of Medicine, Section of Internal Medicine University of Verona Verona Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Capasso","sequence":"additional","affiliation":[{"name":"Department of Molecular Medicine and Medical Biotechnologies University \u201cFederico II\u201d of Naples Naples 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