{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:58:45Z","timestamp":1785373125608,"version":"3.55.0"},"reference-count":19,"publisher":"Wiley","issue":"14","license":[{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T00:00:00Z","timestamp":1780358400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100016471","name":"Agios Pharmaceuticals","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100016471","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Laboratory Analysis"],"published-print":{"date-parts":[[2026,7]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Beta\u2010thalassemia is a genetically heterogeneous hemoglobinopathy with marked clinical variability. In Spain, comprehensive nationwide data on transfusion\u2010dependent beta\u2010thalassemia (TDT) remain limited, particularly regarding molecular characterization.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This observational study analyzed data from the National Thalassemia Registry of the Spanish Society of Hematology and Hemotherapy (SEHH). Between November 2022 and February 2025, 147 patients with beta\u2010thalassemia from 42 hospitals were registered; this report focuses on 78 patients with TDT. Clinical, transfusion, and biochemical data were collected, and molecular analysis of the\n                      <jats:italic>HBB<\/jats:italic>\n                      and\n                      <jats:italic>HBA<\/jats:italic>\n                      genes was performed using Sanger sequencing, next\u2010generation sequencing, and complementary techniques. Genotypes were classified according to the degree of beta\u2010globin synthesis reduction.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The mean age of TDT patients was 34.3\u2009years, and 73.1% were of Spanish origin. Patients received a mean of 31.4 packed red blood cell units per year. Splenectomy had been performed in 35.9% of cases. Most patients showed adequate iron overload control, with median serum ferritin levels below 1000\u2009ng\/mL. Twenty\u2010four different\n                      <jats:italic>HBB<\/jats:italic>\n                      mutations were identified; the most frequent were CD39 (C\u2009&gt;\u2009T), IVS\u20101\u2010nt1 (G\u2009&gt;\u2009A), IVS\u20101\u2010nt110 (G\u2009&gt;\u2009A), IVS\u20101\u2010nt6 (T\u2009&gt;\u2009C), and IVS\u20101\u2010nt1 (G\u2009&gt;\u2009T), accounting for 75% of alleles. Genotype distribution was 55.2% \u03b2\n                      <jats:sup>0<\/jats:sup>\n                      \/\u03b2\n                      <jats:sup>0<\/jats:sup>\n                      , 30.3% \u03b2\n                      <jats:sup>0<\/jats:sup>\n                      \/\u03b2\n                      <jats:sup>+<\/jats:sup>\n                      , and 14.4% \u03b2\n                      <jats:sup>+<\/jats:sup>\n                      \/\u03b2\n                      <jats:sup>+<\/jats:sup>\n                      . Patients with \u03b2\n                      <jats:sup>+<\/jats:sup>\n                      \/\u03b2\n                      <jats:sup>+<\/jats:sup>\n                      genotypes had significantly lower ferritin levels.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>This nationwide registry highlights the genetic and clinical heterogeneity of TDT in Spain and underscores the value of molecular characterization for patient management, genetic counseling, and future therapeutic strategies.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/jcla.70272","type":"journal-article","created":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T07:26:37Z","timestamp":1780385197000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Beta\u2010Thalassemia in Spain: Results From the National Thalassemia Registry and Molecular Analysis of Patients With Transfusion\u2010Dependent Thalassemia"],"prefix":"10.1002","volume":"40","author":[{"given":"Ana","family":"Villegas","sequence":"first","affiliation":[{"name":"Faculty of Medicine Universidad Complutense de Madrid  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5126-5039","authenticated-orcid":false,"given":"Paloma","family":"Ropero","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC) Hospital Cl\u00ednico San Carlos  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando Ataulfo","family":"Gonz\u00e1lez","sequence":"additional","affiliation":[{"name":"Instituto de Investigaci\u00f3n Sanitaria San Carlos (IdISSC) Hospital Cl\u00ednico San Carlos  Madrid 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