{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T12:10:16Z","timestamp":1775045416144,"version":"3.50.1"},"reference-count":141,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":90,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100020912","name":"King Faisal University","doi-asserted-by":"publisher","award":["KFU241941"],"award-info":[{"award-number":["KFU241941"]}],"id":[{"id":"10.13039\/501100020912","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Human Mutation"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Inherited blood disorders (IBDs) are a major health concern in the Kingdom of Saudi Arabia (KSA), largely due to the high prevalence of consanguineous marriages.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Objectives<\/jats:title>\n                    <jats:p>This review is aimed at summarizing gene mutations and variants associated with IBDs in the Saudi population to enhance diagnosis and personalized care.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Published studies on IBD\u2010related genetic mutations in Saudis were systematically retrieved from PubMed, Web of Science, Google Scholar, and EGEMS database using keywords \u201cgene,\u201d \u201cSaudi,\u201d \u201cpolymorphism,\u201d and \u201cthe different inherited blood disorders.\u201d A total of 118 studies published between 2015 and 2024 met the inclusion criteria.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010globin (\n                      <jats:italic>HBB<\/jats:italic>\n                      ) gene showed the greatest mutational diversity, with over 60\n                      <jats:italic>\u03b2<\/jats:italic>\n                      \u2010thalassemia variants identified. The\n                      <jats:italic>\u03b1<\/jats:italic>\n                      \u2010globin genes (\n                      <jats:italic>HBA1<\/jats:italic>\n                      ,\n                      <jats:italic>HBA2<\/jats:italic>\n                      , and the unique\n                      <jats:italic>HBA12<\/jats:italic>\n                      ) were frequently involved in\n                      <jats:italic>\u03b1<\/jats:italic>\n                      \u2010thalassemia, with the \u2013\n                      <jats:italic>\u03b13.7<\/jats:italic>\n                      deletion predominating. In sickle cell disease, the\n                      <jats:italic>HbS<\/jats:italic>\n                      mutation (\n                      <jats:italic>c.20A<\/jats:italic>\n                      &gt;\n                      <jats:italic>T<\/jats:italic>\n                      ) is the most common, primarily linked to the Arab\u2013Indian haplotype, whereas polymorphisms in\n                      <jats:italic>BCL11A<\/jats:italic>\n                      ,\n                      <jats:italic>HBS1L-MYB<\/jats:italic>\n                      , and\n                      <jats:italic>ANTXR1<\/jats:italic>\n                      influenced fetal hemoglobin levels. Frequent thrombophilia\u2010related variants occurred in\n                      <jats:italic>F5<\/jats:italic>\n                      ,\n                      <jats:italic>SERPINC1<\/jats:italic>\n                      ,\n                      <jats:italic>MTHFR<\/jats:italic>\n                      , and\n                      <jats:italic>FII<\/jats:italic>\n                      , and inherited thrombocytopenias were linked to\n                      <jats:italic>MPL<\/jats:italic>\n                      ,\n                      <jats:italic>ANKRD26<\/jats:italic>\n                      ,\n                      <jats:italic>THPO<\/jats:italic>\n                      ,\n                      <jats:italic>DIAPH1<\/jats:italic>\n                      , and\n                      <jats:italic>ADAMTS13<\/jats:italic>\n                      . Rare disorders such as Wiskott\u2013Aldrich syndrome (WAS) and coagulation factor deficiencies (e.g., FX, F7, and F8) were also reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The Saudi population exhibits a distinct and diverse spectrum of IBD\u2010related mutations. Understanding these genetic patterns can enhance diagnostic precision, guide genetic counseling, and advance personalized medicine initiatives across the Kingdom.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1155\/humu\/2418005","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T11:11:36Z","timestamp":1775041896000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Comprehensive Review of Gene Mutations in Inherited Blood Disorders Among the Saudi Population"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4309-7095","authenticated-orcid":false,"given":"Nancy S.","family":"Younis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rahma M.","family":"Alkabsh","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shahad M.","family":"Nasser 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