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Membrane defects in inherited disorders of platelet function
The American Journal of Pediatric Hematology/Oncology
|January 1, 1982
Summary
Platelet membrane defects cause inherited bleeding disorders like thrombasthenia and Bernard-Soulier syndrome. These defects impact platelet adhesion and function, highlighting the importance of investigating membrane abnormalities in bleeding conditions.
Area of Science:
- Hematology
- Cell Biology
- Biochemistry
Background:
- Inherited hemorrhagic disorders often involve platelet dysfunction.
- Membrane defects are frequently observed in abnormal platelets from affected patients.
Purpose of the Study:
- To review and highlight the role of various membrane defects in inherited platelet disorders.
- To emphasize the need to investigate membrane abnormalities in acquired platelet defects as well.
Main Methods:
- Biochemical studies
- Ultrastructural analysis of platelets
- Review of clinical and laboratory findings in inherited platelet disorders
Main Results:
- Thrombasthenia: Deficiency/absence of surface glycoproteins impairs platelet-platelet adhesion.
- Bernard-Soulier syndrome: Deficiency/absence of different surface glycoproteins affects adhesion to vascular injury sites.
- Hermansky-Pudlak syndrome: Dense body membrane defects lead to deficient storage of adenine nucleotides and serotonin.
- Gray-platelet syndrome: Abnormalities in alpha-granule membrane formation.
- Chediak-Higashi syndrome: Giant granules and deficient storage pools linked to organelle membrane issues.
Conclusions:
- Membrane defects are a common underlying pathology in diverse inherited platelet function disorders.
- Investigating membrane abnormalities is crucial for diagnosing and understanding both inherited and acquired platelet defects.