Molecular defects that affect platelet dense granules

Semin Thromb Hemost. 2004 Oct;30(5):537-47. doi: 10.1055/s-2004-835674.


Platelet dense granules form using mechanisms shared by melanosomes in melanocytes and by subsets of lysosomes in more generalized cells. Consequently, disorders of platelet dense granules can reveal how organelles form and move within cells. Models for the study of new vesicle formation include isolated delta-storage pool deficiency, combined alphadelta-storage pool deficiency, Hermansky-Pudlak syndrome (HPS), Chediak-Higashi syndrome, Griscelli syndrome, thrombocytopenia absent radii syndrome, and Wiskott-Aldrich syndrome. The molecular bases of dense granule deficiency are known for the seven subtypes of HPS, as well as for Chediak-Higashi syndrome, Griscelli syndrome, and Wiskott-Aldrich syndrome. The gene products involved in these disorders help elucidate the generalized process of the formation of vesicles from extant membranes such as the Golgi.

Publication types

  • Review

MeSH terms

  • Blood Platelet Disorders / genetics*
  • Blood Platelet Disorders / pathology
  • Blood Platelets / cytology*
  • Blood Platelets / pathology*
  • Blood Platelets / ultrastructure
  • Chediak-Higashi Syndrome / genetics
  • Chediak-Higashi Syndrome / pathology
  • Exons
  • Gene Expression Regulation
  • Hair / pathology
  • Hermanski-Pudlak Syndrome / genetics
  • Hermanski-Pudlak Syndrome / pathology
  • Humans
  • Lysosomes / metabolism
  • Microscopy, Electron
  • Thrombocytopenia / genetics
  • Wiskott-Aldrich Syndrome / genetics
  • Wiskott-Aldrich Syndrome / pathology