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Newly recognized cellular abnormalities in the gray platelet syndrome
- Source :
- Blood. 98(5)
- Publication Year :
- 2001
-
Abstract
- The gray platelet syndrome (GPS) is a rare congenital bleeding disorder in which thrombocytopenia is associated with increased platelet size and decreased α-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 α-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 α-granule packaging. Furthermore, the secretory compartment of another blood cell line, the neutrophil, was also affected in this family of GPS.
- Subjects :
- Blood Platelets
Pathology
medicine.medical_specialty
Neutrophils
Immunoelectron microscopy
Immunology
Macrophage-1 Antigen
Granulocyte
Cytoplasmic Granules
Biochemistry
Azure Stains
Gray platelet syndrome
Blood cell
Von Willebrand factor
Megakaryocyte
Internal medicine
von Willebrand Factor
medicine
Diseases in Twins
Humans
Platelet
Cell Lineage
Child
Microscopy, Immunoelectron
Thrombopoietin
Cells, Cultured
Cell Size
biology
Staining and Labeling
Cell Biology
Hematology
Syndrome
medicine.disease
Alkaline Phosphatase
Hematopoietic Stem Cells
Isoenzymes
N-Formylmethionine Leucyl-Phenylalanine
Protein Transport
medicine.anatomical_structure
Endocrinology
CD18 Antigens
biology.protein
Receptors, Complement 3b
Eosine Yellowish-(YS)
Female
Blood Platelet Disorders
Megakaryocytes
Subjects
Details
- ISSN :
- 00064971
- Volume :
- 98
- Issue :
- 5
- Database :
- OpenAIRE
- Journal :
- Blood
- Accession number :
- edsair.doi.dedup.....e9194b4b2ab0fc23e096dd2b78d579c3