{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T23:44:36Z","timestamp":1792107876631,"version":"4.4.0"},"reference-count":7,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T00:00:00Z","timestamp":1792022400000},"content-version":"vor","delay-in-days":10,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,10,5]]},"abstract":"Abstract<\/jats:title>\n \n Introduction<\/jats:title>\n MYH9\u2013related disease (MYH9-RD) is a rare autosomal dominant disorder characterized by congenital macrothrombocytopenia, with giant platelets and variable extrahematologic manifestations. It is frequently underdiagnosed and misclassified as immune thrombocytopenia.<\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n A 31-year-old pregnant woman undergoing routine first-trimester testing was shown to have severe thrombocytopenia (platelet count = 5.000\u2009\u00d7\u200910\u00b3\/\u00b5L) by impedance counting.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n Platelet histograms and scattergrams generated on a Sysmex XN-10 hematology analyzer suggested giant platelets, while fluorescence counting using a Sysmex XN-20 hematology analyzer yielded a higher platelet count (19.000\u2009\u00d7\u200910\u00b3\/\u00b5L), considered a more plausible estimate in the presence of giant platelets. Peripheral blood smear examination excluded platelet clumping and demonstrated numerous giant platelets and basophilic neutrophilic inclusions, subsequently interpreted as D\u00f6hle-like bodies. Further medical history revealed a previous diagnosis of MYH9-RD. Longitudinal evaluation showed persistently low but stable platelet counts, no kidney involvement, and mild liver enzyme elevation.<\/jats:p>\n <\/jats:sec>\n \n Discussion<\/jats:title>\n This case highlights the diagnostic value of integrating automated hematology data with peripheral blood smear examination in inherited macrothrombocytopenias. Platelet counts in the presence of giant platelets may be underestimated by impedance-based analyzers because of size-dependent misclassification, whereas fluorescence-based counting may provide a more reliable estimate. Recognition of characteristic morphologic features, including D\u00f6hle-like bodies, is essential for identifying MYH9-RD and distinguishing it from immune thrombocytopenia, thereby avoiding inappropriate diagnostic and therapeutic interventions.<\/jats:p>\n <\/jats:sec>","DOI":"10.1093\/labmed\/lmag078","type":"journal-article","created":{"date-parts":[[2026,9,26]],"date-time":"2026-09-26T12:23:35Z","timestamp":1790425415000},"source":"Crossref","is-referenced-by-count":0,"title":["Analytical discrepancy in platelet counting in\n MYH9<\/i>\n \u2013related disease: a case report"],"prefix":"10.1093","volume":"57","author":[{"given":"Marco","family":"De Girolamo","sequence":"first","affiliation":[{"name":"Alma Mater Studiorum, Universit\u00e0 di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Marrocchi","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Vitone","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Scapaticci","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Bovara","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tommaso Paolo","family":"Papillo","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , Bologna,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Mancini","sequence":"additional","affiliation":[{"name":"LUM, AUSL di Bologna , 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disorders","volume":"124","author":"Noris","year":"2014","journal-title":"Blood"},{"key":"2026101518522868800_lmag078-B4","doi-asserted-by":"publisher","first-page":"2071","DOI":"10.1111\/jth.12406","article-title":"Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders","volume":"11","author":"Kitamura","year":"2013","journal-title":"J Thromb Haemost"},{"key":"2026101518522868800_lmag078-B5","doi-asserted-by":"publisher","first-page":"236","DOI":"10.1002\/humu.22476","article-title":"MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations","volume":"35","author":"Pecci","year":"2014","journal-title":"Hum Mutat"},{"key":"2026101518522868800_lmag078-B6","doi-asserted-by":"publisher","first-page":"59","DOI":"10.1515\/almed-2025-0133","article-title":"Comparative analysis of platelet counts using Beckman Coulter DxH-900, Mindray BC-6800 Plus, CellaVision DM9600 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