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The empty sack syndrome: a platelet storage pool deficiency associated with empty dense granules
A McNicol1, S J Israels, C Robertson
1Manitoba Institute of Cell Biology, University of Manitoba, Winnipeg, Canada.
British Journal of Haematology
|March 1, 1994
Summary
Two sisters with lifelong bleeding issues were found to have a novel platelet disorder, termed the "empty sack syndrome," characterized by reduced dense granule contents despite normal granule membrane presence.
Area of Science:
- Hematology
- Platelet Biology
- Genetic Disorders
Background:
- Bleeding tendencies can stem from platelet defects.
- Dense granules within platelets store crucial molecules for hemostasis.
- Understanding dense granule function is key to diagnosing bleeding disorders.
Observation:
- Two sisters presented with lifelong bleeding disorders.
- Abnormal platelet aggregation and reduced secretion of serotonin and ATP were noted.
- Platelets showed significantly fewer dense granules compared to controls.
Findings:
- Platelet serotonin, ADP, and ATP levels were diminished, with an increased ATP:ADP ratio.
- Immunofluorescence and immunoblotting revealed normal granulophysin levels and surface expression.
- These findings indicate a storage pool disease with reduced granular contents, not absent granules.
Implications:
- This study identifies a novel form of platelet storage pool disease, the "empty sack syndrome."
- This condition differs from Hermansky-Pudlak syndrome, despite some similarities.
- Further research into "empty sack syndrome" may reveal new therapeutic targets for bleeding disorders.