Bernard-Soulier Syndrome
A rare, inherited platelet disorder characterised by mild to severe bleeding tendency , macrothrombocytopenia, and absent ristocetin-induced platelet agglutination.
Bernard-Soulier syndrome
is a platelet function disorder caused by an abnormality in the genes for glycoprotein Ib/IX/V. These genes code for a group of linked proteins normally found on the surface of platelets, the glycoprotein Ib/IX/V receptor (also called the von Willebrand factor or VWF receptor). Because this receptor is absent or is not working properly, platelets do not stick to the injured blood vessel wall the way they should and it is difficult for the normal blood clot to form.
Percentage of normal factor activity in blood:
<1 / 1,000,000
Inheritance:
Autosomal dominant, Autosomal recessive
Age of onset:
All ages
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