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The bernard-soulier syndrome

B A Konkle1

  • 1Cardeza Foundation for Hematologic Research, Department of Medicine, Jefferson Medical College of Thomas Jefferson University, Philadelphia, PA 19107, USA.

Trends in Cardiovascular Medicine
|January 18, 2011
PubMed

The Bernard-Soulier syndrome (BSS) is a rare inherited disorder of platelet function due to absence or markedly decreased expression of the platelet GpIb-V-IX receptor. This receptor plays a critical role in hemostasis by initiating platelet adhesion and subsequent activation at the site of vessel injury. Through its link to the platelet cytoskeleton, the GpIb-V-IX complex appears to be required to maintain normal platelet size and structure. Elucidation of the cDNA and genomic structures of the members of this complex, as well as the mutations responsible for BSS, has greatly advanced our knowledge of the structure and function of the GpIb-V-IX complex in hemostasis. (Trends Cardiovasc Med 1997;7:239-244). © 1997, Elsevier Science Inc.

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