Bernard-Soulier Syndrome-1
Incidence:
GPIb/IX
is missing from platelet membranes
Inherited
defect
Defect:
Rare
Function of GPIb/IX in hemostasis:
Site
on which vWF binds to platelet
Clinical features:
Prolonged
bleeding time
Enlarged
platelets
Thrombocytopenia
(50.0 – 80.0 x 109/L)
Decreased
survival time of platelets
Aggregation studies:
Normal
to:
ADP, epinephrine, collagen, arachidonic acid
Abnormal
to:
Ristocetin or botrocetin