D2I2.
genetic

Bernard–Soulier syndrome

Bernard–Soulier (BSS) is a rare bleeding disorder that is caused by a of the glycoprotein Ib-IX-V complex (GPIb-IX-V), the for von Willebrand factor. The 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 .

Underlined words are explained — tap any of them.

Causes — why it happens

  • · in GP1BA, GP1BB and GP9

How it's found

  • ·Flow cytometry analysis

Treatment

  • ·Platelet transfusion
Plain-language summary adapted from Wikipedia. Not medical advice.