Structural Defects in Inherited and Giant Platelet Disorders

  • James G. White
Part of the Advances in Human Genetics book series (AHUG, volume 19)


These have been heady years for people in platelet research. Advances in biochemical techniques have made it possible to define the basic abnormalities of major inherited disorders of platelet function. Deficiencies in specific platelet surface membrane glycoproteins have been characterized, and are responsible for the functional failure of platelets from patients with the Bernard-Soulier syndrome (BSS) and Glanzman’s thrombasthenia, as well as individuals whose platelets do not adhere to collagen (George et al. 1985). Absence of defective function of cyclooxygenase and thromboxane synthetase enzymes required to form a thromboxane A2 have been found in familial hemorrhagic conditions (Gerrard, 1985). Impaired release or absence of secretory products or storage organelles have been shown to affect platelet function in vitro and in vivo (White, 1989). Continued improvements in technology will undoubtedly result in clarification of the molecular basis for all of the known platelet disorders and new ones yet to be discovered.


Dense Body Alpha Granule Giant Platelet Bovine Platelet Giant Granule 
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Copyright information

© Springer Science+Business Media New York 1990

Authors and Affiliations

  • James G. White
    • 1
  1. 1.Departments of Laboratory Medicine/Pathology and PediatricsUniversity of Minnesota Medical SchoolMinneapolisUSA

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