gray platelet syndrome

A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or c

A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21.

Signs and symptoms

• Menorrhagia
• Abnormal bleeding
• Prolonged bleeding time
• Abnormal number of alpha granules
• Reduced quantity of Von Willebrand factor
• Impaired thrombin-induced platelet aggregation
• Myelofibrosis
• Reduced von Willebrand factor activity
• Impaired collagen-induced platelet aggregation
• Bruising susceptibility

Also known as: BDPLT4; GPS; platelet alpha-granule deficiency; platelet-type bleeding disorder 4