platelet disease


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  • Platelet adhesion defect

    • Bernard Soulier syndrome: giant plt, large megas
    • VWD type 2B: giant plt, VWF mutation
    • Montreal platelet syndrome: giant plt
    • pseudo VWD: GP Ib mutant -> increased affinity for VWF -> removal from circulation
  • Secretion defect

    • Gray platelet syndrome
    • Wiskott-Aldrich syndrome
    • X linked thrombocytopenia
    • Hermansky Pudlak syndrome
    • Chediak Higashi
  • MYH9

  • Kasabach Merritt syndrome