Biochemical studies of two patients with the gray platelet syndrome. Selective deficiency of platelet alpha granules

The biochemistry of platelets from two unrelated patients with the gray platelet syndrome, a deficiency of platelet alpha-granules, has been evaluated. Ultrastructural studies of their platelets revealed the number of alpha-granules to be less than 15% of normal, whereas the number of dense bodies w...

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Bibliographic Details
Published in:The Journal of clinical investigation 1980-07, Vol.66 (1), p.102-109
Main Authors: Gerrard, J M, Phillips, D R, Rao, G H, Plow, E F, Walz, D A, Ross, R, Harker, L A, White, J G
Format: Article
Language:English
Subjects:
Acid Phosphatase - analysis
Adenine Nucleotides - analysis
Adult
Beta-Globulins - analysis
Blood Platelet Disorders - metabolism
Blood Platelet Disorders - pathology
Blood Platelets - analysis
Blood Platelets - ultrastructure
Cytoplasmic Granules - ultrastructure
Female
Glucuronidase - analysis
Hexosaminidases - analysis
Humans
Infant
Male
Platelet Aggregation
Platelet Factor 4 - analysis
Serotonin - analysis
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Summary:The biochemistry of platelets from two unrelated patients with the gray platelet syndrome, a deficiency of platelet alpha-granules, has been evaluated. Ultrastructural studies of their platelets revealed the number of alpha-granules to be less than 15% of normal, whereas the number of dense bodies was within normal limits. Platelets from both patients had severe deficiencies of platelet factor 4 and beta-thromboglobulin (less than 10% of normal). Sodium dodecyl sulfate-polyacrylamide gel electrophoresis showed a marked deficiency of thrombin-sensitive protein in both patients. Analysis of the platelet-derived growth factor in one patient showed it was also markedly reduced. Levels of lysosomal enzymes, adenine nucleotides, serotonin, and catalase, and conversion of arachidonic acid by the lipoxygenase and cyclo-oxygenase enzymes, were within normal limits. The results provide important evidence to define the contents of alpha-granules and to differentiate these contents from the contents of lysosomal granules, dense bodies, and peroxisomes. Functional studies of these platelets showed deficiencies in ADP, thrombin, and collagen aggregation. The results suggest that alpha-granules or their contents make a contribution to normal platelet aggregation.
ISSN:0021-9738
DOI:10.1172/JCI109823