{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T17:40:09Z","timestamp":1791222009387,"version":"4.1.0"},"reference-count":40,"publisher":"American Society of Hematology","issue":"1","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2025,12,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Inherited and acquired disorders that qualitatively impair platelet function represent important and commonly encountered conditions. While some rare, well-characterized conditions (eg, Glanzmann thrombasthenia and Bernard-Soulier syndrome) have pathognomonic findings and glycoprotein deficiencies, the more commonly encountered platelet function disorders are much more heterogeneous and challenging to diagnose. Qualitative platelet disorders typically present with mild to moderate, mucocutaneous, and challenge-related bleeding, particularly for hemostatic challenges prior to diagnosis. Diagnostic tests should assess platelet counts and size; platelet morphology by light microscopy; platelet function in aggregation assays (a \u201cgold standard\u201d test for qualitative platelet disorders); platelet-dense granule numbers, granule contents, and\/or release; and, less commonly, platelet glycoproteins, procoagulant function, \u03b1-granule release, or ultrastructure. Genetic tests can be helpful, but the chances of finding a diagnostic, disease-causing, pathogenic mutation with a platelet disorder genetic test panel is much lower if there is not an a priori suspected cause and\/or inherited thrombocytopenia. Commonly, the diagnosis of a qualitative platelet disorder is made after confirming impaired platelet aggregation responses to multiple agonists, with a pattern that excludes rare disorders (eg, Glanzmann thrombasthenia and Bernard-Soulier syndrome), and\/or platelet-dense granule deficiency; both findings are highly predictive of a bleeding disorder. To communicate and discuss diagnostic test findings with patients and optimize care, it is also important to have knowledge of the bleeding risks for qualitative platelet disorders and their typical responses to therapies.<\/jats:p>","DOI":"10.1182\/hematology.2025000699","type":"journal-article","created":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T14:07:20Z","timestamp":1764943640000},"page":"137-146","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":2,"title":["When it's not Glanzmann thrombasthenia or Bernard-Soulier syndrome: diagnosing other qualitative platelet disorders"],"prefix":"10.1182","volume":"2025","author":[{"given":"Catherine P. M.","family":"Hayward","sequence":"first","affiliation":[{"name":"1 Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada"},{"name":"2 Department of Medicine, McMaster University, Hamilton, Canada; and"},{"name":"3 Special Coagulation Laboratory, Hamilton Regional Laboratory Medicine Program, Hamilton, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Subia","family":"Tasneem","sequence":"additional","affiliation":[{"name":"1 Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"234","published-online":{"date-parts":[[2025,12,5]]},"reference":[{"issue":"6","key":"2025120616321595000_hem2025000699C1","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1080\/10408363.2022.2049199","article-title":"Screening and diagnosis of inherited platelet disorders","volume":"59","author":"Bourguignon","year":"2022","journal-title":"Crit Rev Clin Lab Sci"},{"issue":"1","key":"2025120616321595000_hem2025000699C2","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1111\/bjh.17690","article-title":"Clinical and laboratory diagnosis of heritable platelet disorders in adults and children: a British Society for Haematology Guideline","volume":"195","author":"Gomez","year":"2021","journal-title":"Br J Haematol"},{"issue":"5","key":"2025120616321595000_hem2025000699C3","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1002\/rth2.12374","article-title":"Bleeding risks for uncharacterized platelet function disorders","volume":"4","author":"Brunet","year":"2020","journal-title":"Res Pract Thromb Haemost"},{"issue":"3","key":"2025120616321595000_hem2025000699C4","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"},{"issue":"1","key":"2025120616321595000_hem2025000699C5","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1182\/blood-2003-11-4077","article-title":"Bleeding risks associated with inheritance of the Quebec platelet disorder","volume":"104","author":"McKay","year":"2004","journal-title":"Blood"},{"issue":"7","key":"2025120616321595000_hem2025000699C6","doi-asserted-by":"crossref","first-page":"1192","DOI":"10.3324\/haematol.2016.160754","article-title":"Bleeding risk of surgery and its prevention in patients with inherited platelet disorders","volume":"102","author":"Orsini","year":"2017","journal-title":"Haematologica"},{"issue":"4","key":"2025120616321595000_hem2025000699C7","doi-asserted-by":"crossref","first-page":"675","DOI":"10.1160\/TH11-06-0378","article-title":"A prospective cohort study of light transmission platelet aggregometry for bleeding disorders: is testing native platelet-rich plasma non-inferior to testing platelet count adjusted samples?","volume":"106","author":"Castilloux","year":"2011","journal-title":"Thromb Haemost"},{"issue":"13","key":"2025120616321595000_hem2025000699C8","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1182\/blood.2022017735","article-title":"Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26","volume":"141","author":"Homan","year":"2023","journal-title":"Blood"},{"issue":"10","key":"2025120616321595000_hem2025000699C9","doi-asserted-by":"crossref","first-page":"2612","DOI":"10.1111\/jth.15459","article-title":"GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis","volume":"19","author":"Megy","year":"2021","journal-title":"J Thromb Haemost"},{"issue":"23","key":"2025120616321595000_hem2025000699C10","doi-asserted-by":"crossref","first-page":"2082","DOI":"10.1182\/blood.2018891192","article-title":"Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders","volume":"134","author":"Downes","year":"2019","journal-title":"Blood"},{"issue":"4","key":"2025120616321595000_hem2025000699C11","doi-asserted-by":"crossref","first-page":"676","DOI":"10.1111\/j.1538-7836.2009.03273.x","article-title":"Diagnostic utility of light transmission platelet aggregometry: results from a prospective study of individuals referred for bleeding disorder assessments","volume":"7","author":"Hayward","year":"2009","journal-title":"J Thromb Haemost"},{"issue":"4","key":"2025120616321595000_hem2025000699C12","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1111\/ijlh.12801","article-title":"Electron microscopy examination of platelet whole mount preparations to quantitate platelet dense granule numbers: implications for diagnosing suspected platelet function disorders due to dense granule deficiency","volume":"40","author":"Brunet","year":"2018","journal-title":"Int J Lab Hematol"},{"issue":"2","key":"2025120616321595000_hem2025000699C13","doi-asserted-by":"crossref","first-page":"314","DOI":"10.1111\/jth.12792","article-title":"Diagnosis of inherited platelet function disorders: guidance from the SSC of the ISTH","volume":"13","author":"Gresele","year":"2015","journal-title":"J Thromb Haemost"},{"issue":"3","key":"2025120616321595000_hem2025000699C14","doi-asserted-by":"crossref","first-page":"866","DOI":"10.1111\/jth.15167","article-title":"Guidance on the diagnosis and management of PT-VWD: a communication from the platelet physiology subcommittee of the ISTH\u2014REPLY to Comment on the disease nomenclature","volume":"19","author":"Othman","year":"2021","journal-title":"J Thromb Haemost"},{"issue":"5","key":"2025120616321595000_hem2025000699C15","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"},{"issue":"4","key":"2025120616321595000_hem2025000699C16","doi-asserted-by":"crossref","first-page":"516","DOI":"10.1080\/09537104.2020.1771549","article-title":"Harmonizing light transmission aggregometry in the Netherlands by implementation of the SSC-ISTH guideline","volume":"32","author":"Munnix","year":"2021","journal-title":"Platelets"},{"issue":"12","key":"2025120616321595000_hem2025000699C17","doi-asserted-by":"crossref","first-page":"3193","DOI":"10.1111\/jth.15526","article-title":"Consensus recommendations on flow cytometry for the assessment of inherited and acquired disorders of platelet number and function: communication from the ISTH SSC Subcommittee on Platelet Physiology","volume":"19","author":"Frelinger","year":"2021","journal-title":"J Thromb Haemost"},{"issue":"9","key":"2025120616321595000_hem2025000699C18","doi-asserted-by":"crossref","first-page":"2127","DOI":"10.1111\/jth.15781","article-title":"Expert opinion on the use of platelet secretion assay for the diagnosis of inherited platelet function disorders: communication from the ISTH SSC Subcommittee on Platelet Physiology","volume":"20","author":"Mezzano","year":"2022","journal-title":"J Thromb Haemost"},{"issue":"10","key":"2025120616321595000_hem2025000699C19","doi-asserted-by":"crossref","first-page":"2941","DOI":"10.1016\/j.jtha.2023.07.006","article-title":"Consensus report on flow cytometry for platelet function testing in thrombocytopenic patients: communication from the SSC of the ISTH","volume":"21","author":"Jourdi","year":"2023","journal-title":"J Thromb Haemost"},{"issue":"4","key":"2025120616321595000_hem2025000699C20","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1111\/hae.14578","article-title":"Platelet function testing: current practice among clinical centres in Northern Europe","volume":"28","author":"Szanto","year":"2022","journal-title":"Haemophilia"},{"issue":"9","key":"2025120616321595000_hem2025000699C21","doi-asserted-by":"crossref","first-page":"1562","DOI":"10.1111\/jth.12650","article-title":"Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey","volume":"12","author":"Gresele","year":"2014","journal-title":"J Thromb Haemost"},{"issue":"suppl 1","key":"2025120616321595000_hem2025000699C22","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1111\/ijlh.12995","article-title":"Update on diagnostic testing for platelet function disorders: what is practical and useful?","volume":"41","author":"Hayward","year":"2019","journal-title":"Int J Lab Hematol"},{"issue":"2","key":"2025120616321595000_hem2025000699C23","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1111\/ijlh.14216","article-title":"Evaluation of a diagnostic platelet aggregation test strategy for platelet rich plasma samples with low platelet counts","volume":"46","author":"Altahan","year":"2024","journal-title":"Int J Lab Hematol"},{"issue":"3","key":"2025120616321595000_hem2025000699C24","doi-asserted-by":"crossref","first-page":"e204","DOI":"10.1111\/hae.13169","article-title":"Molecular phenotype and bleeding risks of an inherited platelet disorder in a family with a RUNX1 frameshift mutation","volume":"23","author":"Badin","year":"2017","journal-title":"Haemophilia"},{"issue":"5","key":"2025120616321595000_hem2025000699C25","doi-asserted-by":"crossref","first-page":"729","DOI":"10.1111\/j.1365-2141.2009.07890.x","article-title":"Diagnosis of mild platelet function disorders. Reliability and usefulness of light transmission platelet aggregation and serotonin secretion assays","volume":"147","author":"Quiroga","year":"2009","journal-title":"Br J Haematol"},{"issue":"6","key":"2025120616321595000_hem2025000699C26","doi-asserted-by":"crossref","first-page":"648","DOI":"10.1111\/ijlh.12553","article-title":"Variability in platelet dense granule adenosine triphosphate release findings amongst patients tested multiple times as part of an assessment for a bleeding disorder","volume":"38","author":"Badin","year":"2016","journal-title":"Int J Lab Hematol"},{"issue":"4","key":"2025120616321595000_hem2025000699C27","doi-asserted-by":"crossref","first-page":"1010","DOI":"10.1016\/j.jtha.2022.12.031","article-title":"Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders","volume":"21","author":"Zaninetti","year":"2023","journal-title":"J Thromb Haemost"},{"issue":"6","key":"2025120616321595000_hem2025000699C28","doi-asserted-by":"crossref","first-page":"1557","DOI":"10.1111\/ijlh.13638","article-title":"Thrombin generation abnormalities in commonly encountered platelet function disorders","volume":"43","author":"Sharma","year":"2021","journal-title":"Int J Lab Hematol"},{"issue":"10","key":"2025120616321595000_hem2025000699C29","doi-asserted-by":"crossref","first-page":"2511","DOI":"10.3324\/haematol.2022.281340","article-title":"Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations","volume":"107","author":"Ovsyannikova","year":"2022","journal-title":"Haematologica"},{"issue":"22","key":"2025120616321595000_hem2025000699C30","doi-asserted-by":"crossref","first-page":"3264","DOI":"10.1182\/blood.2020009300","article-title":"Genetics of inherited thrombocytopenias","volume":"139","author":"Warren","year":"2022","journal-title":"Blood"},{"issue":"2","key":"2025120616321595000_hem2025000699C31","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1111\/jth.13576","article-title":"Desmopressin for treatment of platelet dysfunction and reversal of antiplatelet agents: a systematic review and meta-analysis of randomized controlled trials","volume":"15","author":"Desborough","year":"2017","journal-title":"J Thromb Haemost"},{"issue":"suppl 3","key":"2025120616321595000_hem2025000699C32","doi-asserted-by":"crossref","first-page":"60","DOI":"10.1111\/hae.14986","article-title":"Rare bleeding disorders: advances in management","volume":"30","author":"Casini","year":"2024","journal-title":"Haemophilia"},{"issue":"12","key":"2025120616321595000_hem2025000699C33","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1182\/blood-2013-04-497123","article-title":"The effect of desmopressin on platelet function: a selective enhancement of procoagulant COAT platelets in patients with primary platelet function defects","volume":"123","author":"Colucci","year":"2014","journal-title":"Blood"},{"issue":"1","key":"2025120616321595000_hem2025000699C34","doi-asserted-by":"crossref","first-page":"126","DOI":"10.1016\/j.jtha.2023.09.021","article-title":"Desmopressin to prevent and treat bleeding in pregnant women with an inherited bleeding disorder: a systematic literature review","volume":"22","author":"Al Arashi","year":"2024","journal-title":"J Thromb Haemost"},{"issue":"7","key":"2025120616321595000_hem2025000699C35","doi-asserted-by":"crossref","first-page":"1948","DOI":"10.3324\/haematol.2019.227876","article-title":"Antithrombotic prophylaxis for surgery-associated venous thromboembolism risk in patients with inherited platelet disorders. The SPATA-DVT Study","volume":"105","author":"Paciullo","year":"2020","journal-title":"Haematologica"},{"issue":"2","key":"2025120616321595000_hem2025000699C36","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1055\/a-1344-7279","article-title":"Anticoagulation in patients with platelet disorders","volume":"41","author":"Zaninetti","year":"2021","journal-title":"Hamostaseologie"},{"issue":"6","key":"2025120616321595000_hem2025000699C37","doi-asserted-by":"crossref","first-page":"e274","DOI":"10.1111\/ijlh.13311","article-title":"Improved platelet counts during prolonged tranexamic therapy for Quebec platelet disorder implicate the underlying fibrinolytic defect as the cause of lower platelet counts","volume":"42","author":"Hayward","year":"2020","journal-title":"Int J Lab Hematol"},{"issue":"9","key":"2025120616321595000_hem2025000699C38","first-page":"1464","article-title":"Management of a left atrial appendage thrombus due to atrial fibrillation complicating Qu\u00e9bec platelet disorder","volume":"38","author":"Goodliffe","year":"2022","journal-title":"Can J Cardiol"},{"issue":"1","key":"2025120616321595000_hem2025000699C39","doi-asserted-by":"crossref","first-page":"527","DOI":"10.1182\/hematology.2020000137","article-title":"Platelet transfusion refractoriness: how do I diagnose and manage?","volume":"2020","author":"Cohn","year":"2020","journal-title":"Hematology Am Soc Hematol Educ Program"},{"issue":"6","key":"2025120616321595000_hem2025000699C40","doi-asserted-by":"crossref","first-page":"955","DOI":"10.1309\/AJCP9V3RRVNZMKDS","article-title":"Development of North American consensus guidelines for medical laboratories that perform and interpret platelet function testing using light transmission aggregometry","volume":"134","author":"Hayward","year":"2010","journal-title":"Am J Clin Pathol"}],"container-title":["Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/ashpublications.org\/hematology\/article-pdf\/2025\/1\/137\/2470123\/137hayward.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/ashpublications.org\/hematology\/article-pdf\/2025\/1\/137\/2470123\/137hayward.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,6]],"date-time":"2025-12-06T21:32:29Z","timestamp":1765056749000},"score":1,"resource":{"primary":{"URL":"https:\/\/ashpublications.org\/hematology\/article\/2025\/1\/137\/556902\/When-it-s-not-Glanzmann-thrombasthenia-or-Bernard"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,12,5]]},"references-count":40,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2025,12,5]]},"published-print":{"date-parts":[[2025,12,5]]}},"URL":"https:\/\/doi.org\/10.1182\/hematology.2025000699","relation":{},"ISSN":["1520-4391","1520-4383"],"issn-type":[{"value":"1520-4391","type":"print"},{"value":"1520-4383","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2025,12,5]]},"published":{"date-parts":[[2025,12,5]]}}}