|
|
 Previous Article | Table of Contents | Next Article 
Blood, 1 September 2001, Vol. 98, No. 5, pp. 1382-1391
HEMATOPOIESIS
Newly recognized cellular abnormalities in the gray
platelet syndrome
Arnaud Drouin,
Rémi Favier,
Jean-Marc Massé,
Najet Debili,
Alain Schmitt,
Carole Elbim,
Josette Guichard,
Mircea Adam,
Marie-Anne Gougerot-Pocidalo, and
Elisabeth M. Cramer
From INSERM U. 474, Hôpital de Port-Royal; INSERM
U. 479, Hôpital Bichat; Laboratoire d'hématologie,
Hôpital Trousseau, Paris, France; and INSERM U. 362, Institut
Gustave Roussy, Villejuif, France.
The gray platelet syndrome (GPS) is a rare congenital
bleeding disorder in which thrombocytopenia is associated with
increased platelet size and decreased  -granule content. This report
describes 3 new pediatric cases presenting with the classical platelet
abnormalities of GPS within one family with normal parents. Examination
of blood smears of the 3 patients demonstrated not only gray platelets, but also gray polymorphonuclear neutrophils (PMNs) with decreased or
abnormally distributed components of secretory compartments (alkaline
phosphatase, CD35, CD11b/CD18). Secondary granules were also decreased
in number as assayed by immunoelectron microscopy. These data confirm
that the secretory compartments in neutrophils were also deficient in
this family. Megakaryocytes (MKs) were cultured from the peripheral
blood CD34+ cells of the 3 patients for 14 days, in the
presence of thrombopoietin and processed for immunoelectron microscopy.
Although von Willebrand factor (vWF) was virtually undetectable in
platelets, vWF immunolabeling was conspicuous in cultured maturing MKs,
particularly within Golgi saccules, but instead of being packaged in
-granules, it was released into the demarcation membrane system. In
contrast, P-selectin followed a more classical pathway.
Double-labeling experiments confirmed that vWF was following an
intracellular pathway distinct from the one of P-selectin. In these 3 new cases of GPS, the MKs appeared to abnormally process vWF, with
secretion into the extracellular space instead of normal -granule
packaging. Furthermore, the secretory compartment of another blood cell
line, the neutrophil, was also affected in this family of GPS.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
B. Lo, L. Li, P. Gissen, H. Christensen, P. J. McKiernan, C. Ye, M. Abdelhaleem, J. A. Hayes, M. D. Williams, D. Chitayat, et al.
Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet {alpha}-granule biogenesis
Blood,
December 15, 2005;
106(13):
4159 - 4166.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
P. Nurden, M. Jandrot-Perrus, R. Combrie, J. Winckler, V. Arocas, C. Lecut, J.-M. Pasquet, T. J. Kunicki, and A. T. Nurden
Severe deficiency of glycoprotein VI in a patient with gray platelet syndrome
Blood,
July 1, 2004;
104(1):
107 - 114.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. G. Drachman
Inherited thrombocytopenia: when a low platelet count does not mean ITP
Blood,
January 15, 2004;
103(2):
390 - 398.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
