platelet-type bleeding disorder 15

A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q.

Signs and symptoms

• Increased mean platelet volume
• Thrombocytopenia
• Platelet anisocytosis
• Epistaxis
• Impaired clot retraction
• Impaired ADP-induced platelet aggregation

Also known as: BDPLT15; autosomal dominant macrothrombocytopenia ACTN1-related