Bernard–Soulier syndrome
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Not to be confused with Brown-Séquard syndrome.
Bernard–Soulier syndrome (BSS) is a rare autosomal recessive bleeding disorder that is caused by a deficiency of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the receptor for von Willebrand factor.[5] The incidence of BSS is estimated to be less than 1 case per million persons, based on cases reported from Europe, North America, and Japan. BSS is a giant platelet disorder, meaning that it is characterized by abnormally large platelets.[6]
Quick Facts Other names, Specialty ...
Bernard-Soulier syndrome | |
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Other names | Hemorrhagiparous thrombocytic dystrophy[1] |
Bernard-Soulier syndrome has an autosomal recessive pattern of inheritance (rarely autosomal dominant).[2] | |
Specialty | Hematology |
Causes | Mutations in GP1BA, GP1BB and GP9[3] |
Diagnostic method | Flow cytometry analysis[1] |
Treatment | Platelet transfusion[4] |
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