Deficiency of P-selectin in a patient with grey platelet syndrome

Eur J Haematol. 1996 Jul;57(1):38-41. doi: 10.1111/j.1600-0609.1996.tb00487.x.

Abstract

Patient B.G. is a 29-yr-old female with a lifelong bleeding disorder characterized clinically by a highly increased bleeding time, menorrhagias, long-lasting bleeding after cuts and tooth extractions and large post-traumatic haematomas. Her coagulation tests were within normal range, platelet count was 140,000-160,000 per microliters, but platelet function was impaired as demonstrated by the absence of collagen-induced aggregation, although no abnormalities were detected in aggregation response to ADP and ristocetin. Morphologically her platelets were characterized by gigantic size-average profile area was about 2.5 times higher than that of control donors, and severe deficiency of alpha-granules-only 16% of their number in control donors. These features taken together indicated the diagnosis of grey platelet syndrome. As has been shown by quantitative immunoblotting, patient's platelets contained small amounts of alpha-granule membrane protein P-selectin-about 15% of that in control donors. The content of plasma membrane glycoproteins IIb-IIIa and Ib was not reduced, suggesting the specific deficiency of alpha-granule membrane protein. Thus, B.G. is the second patient described in the literature (see also Lages et al, J Clin Invest 1991: 87: 919-929) with combined deficiency of alpha-granules and P-selectin.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Diphosphate / pharmacology
  • Adult
  • Bleeding Time
  • Blood Platelet Disorders / blood*
  • Blood Platelet Disorders / pathology
  • Blood Platelets / chemistry
  • Blood Platelets / ultrastructure
  • Cytoplasmic Granules / ultrastructure
  • Female
  • Humans
  • Microscopy, Electron
  • P-Selectin / analysis*
  • Platelet Aggregation / drug effects
  • Platelet Glycoprotein GPIIb-IIIa Complex / analysis
  • Platelet Membrane Glycoproteins / deficiency*
  • Ristocetin / pharmacology
  • Syndrome

Substances

  • P-Selectin
  • Platelet Glycoprotein GPIIb-IIIa Complex
  • Platelet Membrane Glycoproteins
  • Ristocetin
  • Adenosine Diphosphate