{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T22:31:17Z","timestamp":1788215477421,"version":"build-2803163510"},"reference-count":37,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,5,12]],"date-time":"2020-05-12T00:00:00Z","timestamp":1589241600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009606","name":"Arabian Gulf University","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009606","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,1]]},"abstract":"<jats:sec>\n                    <jats:title>Objective\/background:<\/jats:title>\n                    <jats:p>\n                      Mutations in transmembrane protease serine 6 (\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      ) gene induce high hepcidin level, which causes iron-refractory iron deficiency anemia (IRIDA) by preventing duodenal iron absorption. This study aims to identify the common genetic variations of the\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      gene that affect iron levels among Saudi female patients with iron deficiency anemia (IDA).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      All study participants were Saudi females (12\u201349 years old): 32 patients with IDA, 32 patients with IRIDA, and 34 healthy individuals comprising the control group. Hematological investigations, iron profile, serum hepcidin level, and\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      gene transcription were determined. The\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      gene was amplified, sequenced, and analyzed among all study participants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      The mean hepcidin and TMPRSS6 RNA transcription levels in IDA and IRIDA groups were significantly lower than those in the control group.\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      gene sequence analysis detected 41 variants: two in the 5' untranslated region (5'UTR), 17 in introns, and 22 in exons. Thirty-three variants were previously reported in the Single Nucleotide Polymorphism Database, and eight variants were novel; one novel variant was in 5'UTR (g.-2 T &gt; G); five novel variants were detected in exons (p.W73X, p.D479N, p.E523K, p.L674L, and p.I799I). At the time of the sequence analysis of our samples, two variants-p.D479N and p.674L-were novel. However, these variants are present at a very low allele frequency in other populations (L674L, 0.00007761 and D479N, 0.000003980).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      This is the first study to investigate the genetic variants of\n                      <jats:italic toggle=\"yes\">TMPRSS6<\/jats:italic>\n                      gene in Saudi female patients with IDA. The generated data will serve as a reference for future studies on IDA in the Arab population.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1016\/j.hemonc.2020.04.007","type":"journal-article","created":{"date-parts":[[2020,5,15]],"date-time":"2020-05-15T12:27:43Z","timestamp":1589545663000},"page":"41-50","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":11,"title":["Genetic analysis of TMPRSS6 gene in Saudi female patients with iron deficiency anemia"],"prefix":"10.4103","volume":"14","author":[{"given":"Lamiaa H.","family":"Al-Jamea","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexander","family":"Woodman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nihal 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