Conditions / Genetic
Bernard-Soulier syndrome type A2
info · Genetic
A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p.
Signs and symptoms
- Menorrhagia
- Increased mean platelet volume
- Impaired ristocetin-induced platelet aggregation
- Prolonged bleeding after dental extraction
- Thrombocytopenia
- Epistaxis
- Stomatocytosis
- Ecchymosis
- Hemolytic anemia
- Petechiae
Also known as: BSSA2