A new genetic isolate of gray platelet syndrome (GPS): Clinical, cellular, and hematologic characteristics

Tzipora C. Falik-Zaccai, Yair Anikster, Candido E. Rivera, McDonald K. Horne, Liliana Schliamser, Chanika Phornphutkul, Dina Attias, Tehila Hyman, James G. White, William A. Gahl

Research output: Contribution to journalArticle

45 Scopus citations

Abstract

Gray platelet syndrome (GPS) is a disorder characterized by thrombocytopenia and large platelets that lack α granules and their contents. We describe two siblings with GPS who are members of a Moslem Bedouin genetic isolate. The children, an 8-year-old girl and a 5-year-old boy, had characteristic pale blue platelets lacking α granules on electron microscopy. Platelet aggregation studies were normal. The girl underwent a bone marrow aspiration and biopsy which showed mild myelofibrosis and extensive emperipolesis, i.e., the passage of other hematopoietic cells through megakaryocytes. Both children lacked high-molecular-weight multimers of von Willebrand factor (vWF) and had reduced activity and antigens of vWf. Platelet activation was approximately normal when ADP was employed as agonist, but significantly impaired using the thrombin receptor-activating peptide (TRAP). These findings are explained in light of the mechanism of action of each agonist. In addition, we propose that the emperipolesis was caused by increased P-selectin in megakaryocytes, and resulted in release of fibroblastic growth factors, explaining the myelofibrosis. The detailed description of these cases provides a basis for future differentiation of the various types of GPS, and for our current attempts to isolate the gene causing GPS in this genetic isolate.

Original languageEnglish (US)
Pages (from-to)303-313
Number of pages11
JournalMolecular genetics and metabolism
Volume74
Issue number3
DOIs
StatePublished - 2001

Keywords

  • Fibrinogen receptor
  • Genetic isolate
  • Gray platelet syndrome
  • P-selectin

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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    Falik-Zaccai, T. C., Anikster, Y., Rivera, C. E., Horne, M. K., Schliamser, L., Phornphutkul, C., Attias, D., Hyman, T., White, J. G., & Gahl, W. A. (2001). A new genetic isolate of gray platelet syndrome (GPS): Clinical, cellular, and hematologic characteristics. Molecular genetics and metabolism, 74(3), 303-313. https://doi.org/10.1006/mgme.2001.3247