{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T03:08:13Z","timestamp":1788923293495,"version":"build-2803163510"},"reference-count":40,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T00:00:00Z","timestamp":1788912000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hematopathol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Thalassemias represent a major group of hereditary hemoglobin disorders with significant global health impact, yet molecular data from Eastern European populations, particularly from Romania, remain limited.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>This study was aimed at comprehensively characterizing the molecular spectrum of \u03b1-, \u03b2-, and \u03b4\u03b2-thalassemia in the southeastern part of Romania using an expanded panel of molecular diagnostic techniques.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A total of 324 patients with suspected thalassemia were evaluated between 2017 and 2025. Molecular testing included multiplex PCR with reverse dot-blot hybridization, Sanger sequencing, MLPA for \u03b1-globin deletions\/duplications, and multiplex gap-PCR for \u03b4\u03b2 fusion gene detection.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Pathogenic variants were identified in 137 individuals (42.28%). Of these, 21.89% had \u03b1-thalassemia, 66.42% had \u03b2-thalassemia, 10.21% had combined \u03b1 and \u03b2 defects, and 1.45% had Lepore Hb variants. The \u2212\u03b1\n                      <jats:sup>3<\/jats:sup>\n                      \u00b7\n                      <jats:sup>7<\/jats:sup>\n                      deletion and anti-\u03b1\n                      <jats:sup>3<\/jats:sup>\n                      \u00b7\n                      <jats:sup>7<\/jats:sup>\n                      triplication were the predominant \u03b1-globin abnormalities, while IVS I-6 [T\u2009&gt;\u2009C], IVS I-110 [G\u2009&gt;\u2009A], codon 39 [C\u2009&gt;\u2009T], and IVS II-745 [C\u2009&gt;\u2009G] were the most frequent \u03b2-globin mutations. Two cases of the Hb Lepore Boston-Washington subtype were confirmed through gap-PCR and sequencing.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>The mutation distribution observed in southeastern Romania mirrors Mediterranean thalassemia patterns rather than those of Central or Northern Europe.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1007\/s12308-026-00732-3","type":"journal-article","created":{"date-parts":[[2026,9,9]],"date-time":"2026-09-09T02:46:04Z","timestamp":1788921964000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Molecular profiling of thalassemia in Southeastern Romania"],"prefix":"10.1007","volume":"19","author":[{"given":"Costel Stelian","family":"Br\u00eenzan","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miruna-Gabriela","family":"Vizireanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anca Florentina","family":"Mitroi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georgeta Camelia","family":"Cozaru","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"A\u0219chie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florina Madalina","family":"Oniceanu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adrian Nelutu","family":"Mitroi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ionut Eduard","family":"Iordache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,9,9]]},"reference":[{"key":"732_CR1","unstructured":"Taher A, Vichinsky E, Musallam K, Cappellini MD, Viprakasit V (2013) Guidelines for the management of non-transfusion dependent thalassaemia (NTDT). 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