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It is usually inherited in an autosomal recessive manner. Platelet dysfunction in patients with GT is caused by quantitative and\/or qualitative deficiencies in \u03b1IIb\u03b23, which result from mutations in the genes encoding \u03b1IIb\u03b23. These genetic alterations lead to platelet dysfunction characterised by impaired fibrinogen binding capacity upon agonist stimulation, defective aggregation and spreading. While classical GT typically exhibits normal platelet counts and morphology, very rare mutations in\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    (\n                    <jats:italic>encoding<\/jats:italic>\n                    \u03b1IIb) and\/or\n                    <jats:italic>ITGB3<\/jats:italic>\n                    (\n                    <jats:italic>encoding<\/jats:italic>\n                    \u03b23) cause macrothrombocytopenia or increased platelet anisotropy (heterogeneity of platelet size and morphology). This type of mutation mainly localises in the membrane\u2010proximal region of \u03b1IIb\u03b23 and is inherited in an autosomal dominant manner. This particular type of disorder is called\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    \/\n                    <jats:italic>ITGB3<\/jats:italic>\n                    \u2010related macrothrombocytopenia and has been considered a subset of congenital macrothrombocytopenia. Current research suggests that gain\u2010of\u2010function mutations in\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    or\n                    <jats:italic>ITGB3<\/jats:italic>\n                    underlie the pathogenesis of most\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    \/\n                    <jats:italic>ITGB3<\/jats:italic>\n                    \u2010related macrothrombocytopenia and mechanistically distinguish it from classical GT. However, recent reports have documented non\u2010activating ITGB3 mutations that also cause macrothrombocytopenia, presenting a profound challenge to the mechanistic understanding of\n                    <jats:italic>ITGA2B\/ITGB3<\/jats:italic>\n                    \u2010related macrothrombocytopenia. This review summarises the reported cases of gain\u2010of\u2010function mutations in\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    and\n                    <jats:italic>ITGB3<\/jats:italic>\n                    associated with\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    \/\n                    <jats:italic>ITGB3<\/jats:italic>\n                    \u2010related macrothrombocytopenia hitherto and discusses the potential molecular pathways contributing to the unique phenotypes in\n                    <jats:italic>ITGA2B<\/jats:italic>\n                    \/\n                    <jats:italic>ITGB3<\/jats:italic>\n                    \u2010related macrothrombocytopenia.\n                  <\/jats:p>","DOI":"10.1111\/jcmm.70988","type":"journal-article","created":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T10:56:58Z","timestamp":1767869818000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<i>ITGA2B<\/i>\n                    \/\n                    <i>ITGB3<\/i>\n                    \u2010Related Macrothrombocytopenia Associated With Gain\u2010of\u2010Function Mutations in\n                    <i>ITGA2B<\/i>\n                    or\n                    <i>ITGB3<\/i>\n                    Genes"],"prefix":"10.1111","volume":"30","author":[{"given":"Jiao","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Han","family":"Yan","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zijian","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yilin","family":"Zhu","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruonan","family":"Shao","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Honglei","family":"Xin","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing 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Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianhua","family":"Mao","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Collaborative Innovation Center of Hematology Ruijin Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0821-2801","authenticated-orcid":false,"given":"Jiansong","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Hematology, Zhejiang Key Laboratory for Precision Diagnosis and Treatment of Hematological Malignancies, The First Affiliated Hospital Zhejiang University School of Medicine  Hangzhou Zhejiang China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2524-3730","authenticated-orcid":false,"given":"Chao","family":"Fang","sequence":"additional","affiliation":[{"name":"Department of Pharmacology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases Huazhong University of Science and Technology  Wuhan Hubei China"},{"name":"The Key Laboratory for Drug Target Researches and Pharmacodynamic Evaluation of Hubei Province and Tongji\u2010Rongcheng Center for Biomedicine Huazhong University of Science and Technology  Wuhan Hubei China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Xi","sequence":"additional","affiliation":[{"name":"Shanghai Institute of Hematology, State Key Laboratory of Medical Genomics, National Research Center for Translational Medicine at Shanghai, Collaborative Innovation Center of Hematology Ruijin Hospital, Shanghai Jiao Tong University School of Medicine  Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8547-711X","authenticated-orcid":false,"given":"Xiaofeng","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Hematology The Second Affiliated Hospital of Nanjing Medical University  Nanjing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,1,8]]},"reference":[{"issue":"1","key":"e_1_2_13_2_1","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/S1074-7613(03)00173-0","article-title":"The Glycoprotein IIb Molecule Is Expressed on Early Murine Hematopoietic Progenitors and Regulates Their Numbers in Sites of Hematopoiesis","volume":"19","author":"Emambokus N. 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