{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,9]],"date-time":"2026-04-09T22:36:15Z","timestamp":1775774175034,"version":"3.50.1"},"reference-count":28,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2024,9,3]],"date-time":"2024-09-03T00:00:00Z","timestamp":1725321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["18ek0109366h0001"],"award-info":[{"award-number":["18ek0109366h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109366h0002"],"award-info":[{"award-number":["19ek0109366h0002"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["20ek0109366h003"],"award-info":[{"award-number":["20ek0109366h003"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>The deletion region of 22q11.2 deletion syndrome (22q11.2DS) contains a gene encoding glycoprotein Ib\u03b2 (GPIb\u03b2), which is required to express the GPIb\/IX\/V complex on the platelet surface. Therefore, patients with 22q11.2DS may have congenital platelet disorders. However, information is limited on platelets and bleeding symptoms. In this study, we investigated clinical information, including bleeding symptoms, platelet counts, and GPIb expression levels in children and adolescents\/adults with 22q11.2DS.<\/jats:p><\/jats:sec><jats:sec><jats:title>Procedure<\/jats:title><jats:p>Thirty\u2010two patients with 22q11.2DS were enrolled in a prospective cohort study between 2022 and 2023 at outpatient clinics within our institute.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The median platelet counts in adolescents\/adults with 22q11.2DS were significantly lower than those in children (<jats:italic>p\u00a0<\/jats:italic>&lt;\u00a0.0001). A gradual decrease was found along with increasing age (<jats:italic>p\u00a0<\/jats:italic>=\u00a0.0006). Values of median GPIb expression on platelet surfaces (66% in children and 70% in adolescents\/adults) were significantly lower than those in healthy controls (<jats:italic>p\u00a0<\/jats:italic>&lt;\u00a0.0001 and <jats:italic>p\u00a0<\/jats:italic>=\u00a0.0002). Bleeding symptoms included surgery\u2010related bleeding (52%), purpura (31%), and epistaxis (22%); most of them were minor. The median International Society on Thrombosis and Hemostasis bleeding assessment tool score was not significantly different between children and adolescents\/adults (<jats:italic>p\u00a0<\/jats:italic>=\u00a0.2311).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although there was an age\u2010related decrease in platelet count and a disease\u2010related decrease in GPIb expression, no difference in bleeding symptoms was found between children and adolescents\/adults. 22q11.2DS overall had minor bleeding symptoms in daily life, and the disease had little effect on spontaneous bleeding. However, some patients had major bleeding events; further accumulation of data on hemostasis during surgery and trauma is required.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pbc.31292","type":"journal-article","created":{"date-parts":[[2024,9,4]],"date-time":"2024-09-04T04:26:20Z","timestamp":1725423980000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Platelet changes and bleeding symptoms in children, adolescents, and adults with 22q11.2 deletion syndrome"],"prefix":"10.1002","volume":"71","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2222-5425","authenticated-orcid":false,"given":"Atsushi","family":"Sakamoto","sequence":"first","affiliation":[{"name":"Division of Hematology National Center for Child Health and Development (NCCHD)  Tokyo Japan"},{"name":"Center for Postgraduate Education and Training NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toru","family":"Uchiyama","sequence":"additional","affiliation":[{"name":"Department of Human Genetics NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryohei","family":"Futatsugi","sequence":"additional","affiliation":[{"name":"Center for Postgraduate Education and Training NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osamu","family":"Ohara","sequence":"additional","affiliation":[{"name":"Department of Applied Genomics Kazusa DNA Research Institute  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akihiro","family":"Iguchi","sequence":"additional","affiliation":[{"name":"Division of Hematology National Center for Child Health and Development (NCCHD)  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kaname","sequence":"additional","affiliation":[{"name":"Department of Genome Medicine NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Hikosaka","sequence":"additional","affiliation":[{"name":"Division of Plastic Surgery NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hiroshi","family":"Ono","sequence":"additional","affiliation":[{"name":"Division of Cardiology NCCHD  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinji","family":"Kunishima","sequence":"additional","affiliation":[{"name":"Department of Medical Technology School of Health Sciences Gifu University of Medical Science  Gifu Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuichi","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Graduate School of Medicine Yokohama City University  Kanagawa Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Akira","family":"Ishiguro","sequence":"additional","affiliation":[{"name":"Division of Hematology National Center for Child Health and Development (NCCHD)  Tokyo Japan"},{"name":"Center for Postgraduate Education and Training NCCHD  Tokyo 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