Giant platelet disorder

Giant platelet disorders are rare disorders featuring abnormally large platelets, thrombocytopenia and a tendency to bleeding. Giant platelet disorder occurs for inherited diseases like Bernard-Soulier syndrome, gray platelet syndrome and May-Hegglin anomaly.

Giant platelet disorders can be further categorized:


 * Caused by glycoprotein abnormalities: Bernard-Soulier syndrome, Velocardiofacial syndrome
 * Caused by calpain defect: Montreal platelet syndrome
 * Caused by alpha granules defect: Gray platelet syndrome
 * Characterized by abnormal neutrophil inclusions: May-Hegglin anomaly, Sebastian syndrome
 * With systemic manifestations: Hereditary macrothrombocytopenia with hearing loss, Epstein syndrome, Fechtner syndrome
 * With no specific abnormalities: Mediterranean macrothrombocytopenia