This review summarises the reported cases of gain‐of‐function mutations in ITGA2B and ITGB3 associated with ITGA2B/ITGB3‐related macrothrombocytopenia hitherto and discusses the potential molecular pathways contributing to the unique phenotypes in ITGA2B/ITGB3‐related macrothrombocytopenia. The gene discussed is ITGB3; the disease is Macrothrombocytopenia.