{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T08:46:11Z","timestamp":1778661971047,"version":"3.51.4"},"reference-count":31,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2016,6,13]],"date-time":"2016-06-13T00:00:00Z","timestamp":1465776000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001407","name":"Department of Biotechnology , Ministry of Science and Technology","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100001407","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Haemophilia"],"published-print":{"date-parts":[[2016,7]]},"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterized by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleeding tendency. In spite of several causative genes having been identified, the underlying genetic defects remain to be identified in approximately half of the cases.<\/jats:p><\/jats:sec><jats:sec><jats:title>Aims<\/jats:title><jats:p>To understand the molecular pathology of isolated giant platelet disorder from India.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>We studied 112 cases that were referred for investigation of macrothrombocytopenia. Agonist induced platelet aggregation and platelet <jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1b\/<jats:styled-content style=\"fixed-case\">IX<\/jats:styled-content>\/V receptor expression were investigated to assess <jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1b\/<jats:styled-content style=\"fixed-case\">IX<\/jats:styled-content>\/V receptor expression and the <jats:italic><jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">BA<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">BB<\/jats:styled-content><\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>9<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>5<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>8<\/jats:italic>,<jats:italic> <jats:styled-content style=\"fixed-case\">TUBB<\/jats:styled-content>1<\/jats:italic> and <jats:italic><jats:styled-content style=\"fixed-case\">MYH<\/jats:styled-content>9<\/jats:italic> genes were analysed to identify candidate gene defects.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty\u2010three candidate gene defects were identified in 48 of 112 cases, 20 of which were novel. Of the candidate defects identified, 91% were missense and 9% were nonsense variations. The missense variations were in <jats:italic><jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>9<\/jats:italic> (9), <jats:italic><jats:styled-content style=\"fixed-case\">ABCG<\/jats:styled-content>5<\/jats:italic> (4), <jats:italic><jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">BB<\/jats:styled-content><\/jats:italic> (3), <jats:italic><jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">BA<\/jats:styled-content><\/jats:italic> (3) and <jats:italic><jats:styled-content style=\"fixed-case\">MYH<\/jats:styled-content>9<\/jats:italic> (2), while the nonsense defects occurred in <jats:italic><jats:styled-content style=\"fixed-case\">MYH<\/jats:styled-content>9<\/jats:italic> (1) and <jats:italic><jats:styled-content style=\"fixed-case\">GP<\/jats:styled-content>1<jats:styled-content style=\"fixed-case\">BA<\/jats:styled-content><\/jats:italic> (1).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study increases the understanding of the molecular basis of an isolated giant platelet disorder, a common heterogeneous condition prevalent in north and eastern India.<\/jats:p><\/jats:sec>","DOI":"10.1111\/hae.12917","type":"journal-article","created":{"date-parts":[[2016,6,13]],"date-time":"2016-06-13T10:39:00Z","timestamp":1465814340000},"page":"570-582","source":"Crossref","is-referenced-by-count":13,"title":["Congenital macrothrombocytopenia is a heterogeneous disorder in India"],"prefix":"10.1111","volume":"22","author":[{"given":"S.","family":"Ali","sequence":"first","affiliation":[{"name":"Department of Haemostasis and Thrombosis National Institute of Immunohaematology Parel, Mumbai"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Ghosh","sequence":"additional","affiliation":[{"name":"Surat Raktadan Kendra Surat Gujarat India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. 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