{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,11]],"date-time":"2026-09-11T13:11:49Z","timestamp":1789132309767,"version":"build-2803163510"},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2023,3,20]],"date-time":"2023-03-20T00:00:00Z","timestamp":1679270400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Transfusion"],"published-print":{"date-parts":[[2023,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The inherited macrothrombocytopenias are rare disorders and the underlying cause can be identified in many cases but in some, this can remain enigmatic. Platelet transfusions are often administered during hemorrhagic events.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A patient with previously unexplained inherited macrothrombocytopenia with a platelet count between 3\u201320 \u00d7\u200910<jats:sup>9<\/jats:sup>\/L is described in which studies were performed using exome sequencing (ES) and platelet flow cytometry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Both the hemoglobin and white cell counts were normal. ES revealed two suspicious variants, one likely pathogenic and one a variant of uncertain significance, in the UDP\u2010N\u2010acetylglucosamine 2\u2010epimerase\/N\u2010acetylmannosamine kinase (<jats:italic>GNE<\/jats:italic>) gene, and flow cytometry showed diminished expression of surface platelet sialic acid (about 5%) but normal red cell sialic acid. The Thrombopoietin (TPO) level was low, and the patient responded to TPO\u2010mimetic treatment with an increase in the platelet count.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Two variants in the <jats:italic>GNE<\/jats:italic> gene were able to be upgraded to pathogenic with apparently restricted expression to the megakaryocyte lineage. Platelet transfusion may be avoided in these patients with TPO\u2010mimetic treatment.<\/jats:p><\/jats:sec>","DOI":"10.1111\/trf.17300","type":"journal-article","created":{"date-parts":[[2023,3,21]],"date-time":"2023-03-21T05:18:02Z","timestamp":1679375882000},"page":"1092-1099","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Hereditary thrombocytopenia with platelet sialic acid deficiency and mutations in the <scp>GNE<\/scp> genes"],"prefix":"10.1111","volume":"63","author":[{"given":"Caitlin","family":"Montcrieff","sequence":"first","affiliation":[{"name":"Hemostasis and Thrombosis Center Rhode Island Hospital  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen A.","family":"Ferreira","sequence":"additional","affiliation":[{"name":"Division of Flow Cytometry Rhide Ilsand Hospital  Providence Rhode Island USA"},{"name":"Alpert Medical School of Brown University  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracey A.","family":"Cheves","sequence":"additional","affiliation":[{"name":"Division of Coagulation and Transfusion Medicine Rhode Island Hospital  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lauren J.","family":"Massingham","sequence":"additional","affiliation":[{"name":"Alpert Medical School of Brown University  Providence Rhode Island USA"},{"name":"Division of Medical Genetics, Department of Pediatrics Hasbro Children's Hospital  Providence Rhode Island USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8990-6674","authenticated-orcid":false,"given":"Joseph D.","family":"Sweeney","sequence":"additional","affiliation":[{"name":"Alpert Medical School of Brown University  Providence Rhode Island USA"},{"name":"Division of Coagulation and Transfusion Medicine Rhode Island Hospital  Providence 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