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Differentiating PV from ET can be challenging in borderline cases, particularly when hemoglobin (Hb), hematocrit (Hct) and erythropoietin (EPO) values are inconclusive. Functional iron parameters and\n                    <jats:italic>JAK2<\/jats:italic>\n                    variant allele frequency (VAF) may provide additional discriminatory value. To assess the diagnostic utility of transferrin saturation index (TSI), serum ferritin, EPO, and\n                    <jats:italic>JAK2<\/jats:italic>\n                    VAF in distinguishing PV from ET, and to evaluate their association with mutational profiles. We conducted a retrospective, single-center study including 260 adult patients diagnosed with PV or ET between 2009 and 2024. Demographic, clinical, molecular, and laboratory parameters\u2014including ferritin, TSI, EPO, Hb, Hct, and\n                    <jats:italic>JAK2<\/jats:italic>\n                    VAF\u2014were analyzed. Comparative and correlation analyses were performed using appropriate statistical tests. Compared to ET, patients with PV had significantly lower ferritin (median: 35.65 vs. 95.05 ng\/mL), TSI (12.9% vs. 21.64%), and EPO (2.23 vs. 6.11 mIU\/mL), but higher Hb (17.7 vs. 14.3 g\/dL) and Hct (54.6% vs. 43.0%) (all p\u2009&lt;\u20090.001). TSI discriminated PV from ET better than ferritin (p\u2009&lt;\u20090.001 vs. p\u2009=\u20090.128). Among JAK2-mutated cases, VAF was higher in PV than ET (median: 48% vs. 21%, p\u2009=\u20090.003). VAF correlated inversely with ferritin, TSI, and EPO, and positively with Hct. TSI and\n                    <jats:italic>JAK2<\/jats:italic>\n                    VAF outperform ferritin as diagnostic markers to differentiate PV from ET. Integrating functional iron parameters with molecular data improves diagnostic accuracy, particularly in clinically ambiguous cases, and supports their inclusion in MPN diagnostic algorithms.\n                  <\/jats:p>","DOI":"10.1007\/s00277-026-06774-y","type":"journal-article","created":{"date-parts":[[2026,1,24]],"date-time":"2026-01-24T03:55:19Z","timestamp":1769226919000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Diagnostic reassessment in myeloproliferative neoplasms: the value of functional iron parameters and JAK2 allelic burden"],"prefix":"10.1007","volume":"105","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-9617-1872","authenticated-orcid":false,"given":"Rita","family":"Gonz\u00e1lez-Resina","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4851-4097","authenticated-orcid":false,"given":"Sara","family":"Espa\u00f1a-Fern\u00e1ndez de Valderrama","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u00c1ngeles","family":"Monta\u00f1\u00e9s","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5129-8597","authenticated-orcid":false,"given":"Valle","family":"Recasens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6623-780X","authenticated-orcid":false,"given":"Gonzalo","family":"Caballero","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,1,24]]},"reference":[{"issue":"9501","key":"6774_CR1","doi-asserted-by":"publisher","first-page":"1945","DOI":"10.1016\/S0140-6736(05)67785-9","volume":"366","author":"PJ Campbell","year":"2005","unstructured":"Campbell PJ, Scott LM, Buck G, Wheatley K, East CL, Marsden JT et al (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia Vera based on JAK2 V617F mutation status: A prospective study. 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All patients provided written informed consent to be included in the GEMFIN (Grupo Espa\u00f1ol de Enfermedades Mieloproliferativas Cr\u00f3nicas Filadelfia Negativas) registry. The GEMFIN registry has been approved by the appropriate national and regional ethics committee (approval codes GEE-AAS-2015-01 and GEE-AAS-2015-02, the latter approved on March 8, 2017). All patient data were dissociated and anonymized; no additional informed consent was required for this study due to its retrospective nature and because the results did not affect the clinical management of patients.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"59"}}