{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,6]],"date-time":"2026-07-06T13:28:05Z","timestamp":1783344485186,"version":"3.54.6"},"reference-count":32,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,5,1]],"date-time":"2025-05-01T00:00:00Z","timestamp":1746057600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,4,17]],"date-time":"2025-04-17T00:00:00Z","timestamp":1744848000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100016209","name":"Erciyes Universitesi Bilimsel Arastirma Projeleri Koordinasyon Birimi","doi-asserted-by":"publisher","award":["TSG-2023-10935"],"award-info":[{"award-number":["TSG-2023-10935"]}],"id":[{"id":"10.13039\/501100016209","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100016209","name":"Erciyes Universitesi Bilimsel Arastirma Projeleri Koordinasyon Birimi","doi-asserted-by":"publisher","award":["TYG-2023-13110"],"award-info":[{"award-number":["TYG-2023-13110"]}],"id":[{"id":"10.13039\/501100016209","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100008996","name":"T\u00fcrk Hematoloji Derne\u011fi","doi-asserted-by":"publisher","award":["THD-2024-09"],"award-info":[{"award-number":["THD-2024-09"]}],"id":[{"id":"10.13039\/501100008996","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000544","name":"British Association for Psychopharmacology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100000544","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001655","name":"Deutscher Akademischer Austauschdienst","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001655","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003062","name":"Erciyes \u00dcniversitesi","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003062","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["rpthjournal.org","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Research and Practice in Thrombosis and Haemostasis"],"published-print":{"date-parts":[[2025,5]]},"DOI":"10.1016\/j.rpth.2025.102873","type":"journal-article","created":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T13:24:09Z","timestamp":1745501049000},"page":"102873","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders"],"prefix":"10.1016","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7195-2688","authenticated-orcid":false,"given":"Veysel","family":"G\u00f6k","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6100-1205","authenticated-orcid":false,"given":"Alper","family":"Ozcan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4593-8679","authenticated-orcid":false,"given":"Fatma T\u00fcrkan","family":"Mutlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4802-0986","authenticated-orcid":false,"given":"Ebru","family":"Y\u0131lmaz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1853-3780","authenticated-orcid":false,"given":"Deniz","family":"Kocak G\u00f6l","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5656-9867","authenticated-orcid":false,"given":"Mustafa","family":"Ozay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8862-6790","authenticated-orcid":false,"given":"Baver","family":"Demir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1627-9507","authenticated-orcid":false,"given":"H\u00fcseyin","family":"Taskiran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3475-564X","authenticated-orcid":false,"given":"Hasan","family":"Bas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7745-8165","authenticated-orcid":false,"given":"Mehmet Burak","family":"Mutlu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5034-7083","authenticated-orcid":false,"given":"Muhammet Ensar","family":"Dogan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2053-9076","authenticated-orcid":false,"given":"Atil","family":"Bisgin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0171-8682","authenticated-orcid":false,"given":"Ido","family":"Somekh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2251-2387","authenticated-orcid":false,"given":"Meino","family":"Rohlfs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0969-4611","authenticated-orcid":false,"given":"Munis","family":"Dundar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4212-5763","authenticated-orcid":false,"given":"Yusuf","family":"Ozkul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0956-0445","authenticated-orcid":false,"given":"Christoph","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2015-3541","authenticated-orcid":false,"given":"Musa","family":"Karakukcu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2691-4826","authenticated-orcid":false,"given":"Ekrem","family":"Unal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.rpth.2025.102873_bib1","doi-asserted-by":"crossref","first-page":"4521","DOI":"10.3390\/ijms22094521","article-title":"Inherited platelet disorders: an updated overview","volume":"22","author":"Palma\u2013Barqueros","year":"2021","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.rpth.2025.102873_bib2","doi-asserted-by":"crossref","first-page":"2004","DOI":"10.3324\/haematol.2019.233197","article-title":"Inherited thrombocytopenias: history, advances and perspectives","volume":"105","author":"Nurden","year":"2020","journal-title":"Haematologica"},{"key":"10.1016\/j.rpth.2025.102873_bib3","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1080\/09537104.2019.1637835","article-title":"How I approach new onset thrombocytopenia","volume":"31","author":"Swain","year":"2020","journal-title":"Platelets"},{"key":"10.1016\/j.rpth.2025.102873_bib4","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/bjh.12349","article-title":"Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study","volume":"162","author":"Noris","year":"2013","journal-title":"Br J Haematol"},{"key":"10.1016\/j.rpth.2025.102873_bib5","doi-asserted-by":"crossref","first-page":"390","DOI":"10.1182\/blood-2003-05-1742","article-title":"Inherited thrombocytopenia: when a low platelet count does not mean ITP","volume":"103","author":"Drachman","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.rpth.2025.102873_bib6","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1111\/bjh.18501","article-title":"Diagnostic value of multigene sequencing for inherited thrombocytopenia","volume":"199","author":"Freson","year":"2022","journal-title":"Br J Haematol"},{"key":"10.1016\/j.rpth.2025.102873_bib7","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1007\/s12185-021-03136-4","article-title":"ETV6-related thrombocytopenia associated with a transient decrease in von Willebrand factor","volume":"114","author":"Kanamaru","year":"2021","journal-title":"Int J Hematol"},{"key":"10.1016\/j.rpth.2025.102873_bib8","doi-asserted-by":"crossref","first-page":"693","DOI":"10.3390\/genes12050693","article-title":"Genetic confirmation and identification of novel variants for Glanzmann thrombasthenia and other inherited platelet function disorders: a study by the Korean Pediatric Hematology Oncology Group (KPHOG)","volume":"12","author":"Yang","year":"2021","journal-title":"Genes (Basel)"},{"key":"10.1016\/j.rpth.2025.102873_bib9","doi-asserted-by":"crossref","first-page":"1170","DOI":"10.3324\/haematol.2016.146316","article-title":"Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects","volume":"101","author":"Johnson","year":"2016","journal-title":"Haematologica"},{"key":"10.1016\/j.rpth.2025.102873_bib10","doi-asserted-by":"crossref","first-page":"663","DOI":"10.1182\/blood.2019852418","article-title":"ETV6-related thrombocytopenia and leukemia predisposition","volume":"134","author":"Di Paola","year":"2019","journal-title":"Blood"},{"key":"10.1016\/j.rpth.2025.102873_bib11","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.3253","article-title":"Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia","volume":"47","author":"Noetzli","year":"2015","journal-title":"Nat Genet"},{"key":"10.1016\/j.rpth.2025.102873_bib12","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1016\/j.cca.2022.02.001","article-title":"A teenager boy with a novel variant of Sitosterolemia presented with pancytopenia","volume":"529","author":"Gok","year":"2022","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.rpth.2025.102873_bib13","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.3906\/sag-2006-107","article-title":"Flow cytometric analysis of platelet surface glycoproteins in the diagnosis of thirty-two Turkish patients with Glanzmann thrombasthenia: a multicenter experience","volume":"51","author":"Saraymen","year":"2021","journal-title":"Turk J Med Sci"},{"key":"10.1016\/j.rpth.2025.102873_bib14","first-page":"128","article-title":"A novel mutation in a patient with Wiskott\u2013Aldrich syndrome","volume":"37","author":"\u00d6nc\u00fcl","year":"2020","journal-title":"Turk J Haematol"},{"key":"10.1016\/j.rpth.2025.102873_bib15","article-title":"Association of laboratory test results with the bleeding history in patients with inherited platelet function disorders (the Bleeding Assesment Tool\u2014LABoratory tests substudy): communication from the Platelet Physiology ISTH-SSC","volume":"8","author":"Gresele","year":"2023","journal-title":"Res Pract Thromb Haemost"},{"key":"10.1016\/j.rpth.2025.102873_bib16","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1111\/jth.15263","article-title":"The ISTH bleeding assessment tool as predictor of bleeding events in inherited platelet disorders: communication from the ISTH SSC Subcommittee on Platelet Physiology","volume":"19","author":"Gresele","year":"2021","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.rpth.2025.102873_bib17","doi-asserted-by":"crossref","first-page":"615","DOI":"10.1111\/j.1538-7836.2012.04653.x","article-title":"Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders","volume":"10","author":"Peyvandi","year":"2012","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.rpth.2025.102873_bib18","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1016\/j.thromres.2011.05.007","article-title":"Normal range of mean platelet volume in healthy subjects: insight from a large epidemiologic study","volume":"128","author":"Demirin","year":"2011","journal-title":"Thromb Res"},{"key":"10.1016\/j.rpth.2025.102873_bib19","doi-asserted-by":"crossref","first-page":"2751","DOI":"10.1111\/jth.14993","article-title":"Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: communication from the SSC of the ISTH","volume":"18","author":"Downes","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.rpth.2025.102873_bib20","doi-asserted-by":"crossref","first-page":"542","DOI":"10.1182\/blood.2020006480","article-title":"An update on pediatric ITP: differentiating primary ITP, IPD, and PID","volume":"140","author":"Grace","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.rpth.2025.102873_bib21","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1080\/09537104.2017.1356918","article-title":"Challenges on the diagnostic approach of inherited platelet function disorders: is a paradigm change necessary?","volume":"29","author":"Nava","year":"2018","journal-title":"Platelets"},{"key":"10.1016\/j.rpth.2025.102873_bib22","doi-asserted-by":"crossref","first-page":"732","DOI":"10.1111\/jth.14683","article-title":"Validation of the ISTH\/SSC bleeding assessment tool for inherited platelet disorders: a communication from the Platelet Physiology SSC","volume":"18","author":"Gresele","year":"2020","journal-title":"J Thromb Haemost"},{"key":"10.1016\/j.rpth.2025.102873_bib23","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.tmrv.2021.06.001","article-title":"Anemia-induced bleeding in patients with platelet disorders","volume":"35","author":"Thakar","year":"2021","journal-title":"Transfus Med Rev"},{"key":"10.1016\/j.rpth.2025.102873_bib24","doi-asserted-by":"crossref","first-page":"5109","DOI":"10.3390\/ijms24065109","article-title":"Inherited thrombocytopenia caused by variants in crucial genes for glycosylation","volume":"24","author":"Mar\u00edn\u2013Qu\u00edlez","year":"2023","journal-title":"Int J Mol Sci"},{"key":"10.1016\/j.rpth.2025.102873_bib25","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1097\/MOH.0000000000000525","article-title":"Recent advances in inherited platelet disorders","volume":"26","author":"Pluthero","year":"2019","journal-title":"Curr Opin Hematol"},{"key":"10.1016\/j.rpth.2025.102873_bib26","doi-asserted-by":"crossref","first-page":"2066","DOI":"10.1182\/blood.2021014687","article-title":"Hematopoietic stem cell transplantation for Wiskott\u2013Aldrich syndrome: an EBMT Inborn Errors Working Party analysis","volume":"139","author":"Albert","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.rpth.2025.102873_bib27","first-page":"9","article-title":"Clinical features and genetic analysis of six patients with Wiskott-Aldrich syndrome reporting two novel mutations: experience of Erciyes University, Kayseri, Turkey","volume":"27","author":"Patiroglu","year":"2016","journal-title":"Genet Couns"},{"key":"10.1016\/j.rpth.2025.102873_bib28","doi-asserted-by":"crossref","first-page":"e351","DOI":"10.1097\/MPH.0000000000001976","article-title":"Common variable immunodeficiency, autoimmune hemolytic anemia, and pancytopenia associated with a defect in IKAROS","volume":"43","author":"Yilmaz","year":"2021","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.rpth.2025.102873_bib29","doi-asserted-by":"crossref","first-page":"265","DOI":"10.2174\/1871530323666230801100113","article-title":"The reconstitution of T-cells after allogeneic hematopoietic stem cell transplant in a pediatric patient with congenital amegakaryocytic thrombocytopenia (CAMT)","volume":"24","author":"Bayegi","year":"2024","journal-title":"Endocr Metab Immune Disord Drug Targets"},{"key":"10.1016\/j.rpth.2025.102873_bib30","doi-asserted-by":"crossref","first-page":"1","DOI":"10.4274\/jpea.2023.218","article-title":"Inherited bone marrow failure syndromes in children: hereditary bone marrow failure syndromes","volume":"4","author":"Ertun\u00e7","year":"2023","journal-title":"J Pediatr Acad"},{"key":"10.1016\/j.rpth.2025.102873_bib31","doi-asserted-by":"crossref","first-page":"5832","DOI":"10.1182\/blood-2010-08-304725","article-title":"Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations","volume":"116","author":"Pecci","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.rpth.2025.102873_bib32","doi-asserted-by":"crossref","first-page":"820","DOI":"10.3324\/haematol.2019.223966","article-title":"Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial","volume":"105","author":"Zaninetti","year":"2020","journal-title":"Haematologica"}],"container-title":["Research and Practice in Thrombosis and Haemostasis"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2475037925001979?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2475037925001979?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,8,13]],"date-time":"2025-08-13T08:37:22Z","timestamp":1755074242000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2475037925001979"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5]]},"references-count":32,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["S2475037925001979"],"URL":"https:\/\/doi.org\/10.1016\/j.rpth.2025.102873","relation":{},"ISSN":["2475-0379"],"issn-type":[{"value":"2475-0379","type":"print"}],"subject":[],"published":{"date-parts":[[2025,5]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Clinical and laboratory aspects of patients diagnosed with various inherited platelet disorders","name":"articletitle","label":"Article Title"},{"value":"Research and Practice in Thrombosis and Haemostasis","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.rpth.2025.102873","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Author(s). Published by Elsevier Inc. on behalf of International Society on Thrombosis and Haemostasis.","name":"copyright","label":"Copyright"}],"article-number":"102873"}}