platelet-type bleeding disorder 17

A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_mate

A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34.

Signs and symptoms

• Abnormal bleeding
• Prolonged bleeding time
• Absence of alpha granules
• Macrothrombocytopenia
• Myelofibrosis
• Increased RBC distribution width
• Prolonged bleeding following procedure
• Impaired collagen-induced platelet aggregation
• Bruising susceptibility
• Impaired epinephrine-induced platelet aggregation

Also known as: BDPLT17; hereditary thrombasthenia-thrombocytopenia