platelet-type bleeding disorder 16

A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene

A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.

Signs and symptoms

• Giant platelets
• Macrothrombocytopenia
• Thrombocytopenia
• Platelet anisocytosis
• Abnormal bleeding
• Anemia
• Impaired platelet aggregation
• Petechiae

Also known as: autosomal dominant Glanzmann thrombasthenia; autosomal dominant thrombasthenia of Glanzmann and Naegeli