Inherited traits affecting platelet function

摘要: Summary Inherited platelet disorders constitute a large group of diseases involving wide range genetic defects that can lead to bleeding symptoms varying severity. They are associated with in surface membrane glycoproteins resulting e.g. Bernard Soulier Syndrome and Glanzmann Thrombasthenia causing adhesion aggregation, respectively, as well receptors for agonists (a.o. P2Y 12 , TXA 2 ) disrupting signalling. Defects affecting granules be characterised by abnormalities α -granules the Gray syndrome or dense Hermansky-Pudlak Chediak-Higashi syndromes, latter two also altering other cytoplasmic organelles such melanosomes therefore not restricted platelets. Finally, proteins essential signalling pathways Wiskott-Aldrich syndrome) platelet-derived procoagulant activity (Scott Stormorken syndromes) impair function. For most above mouse knockout models have been generated, allowed confirm genotype-phenotype relationship further unravel molecular causes disease mechanisms underlying primary haemostasis. More recently, interest has growing effects more common polymorphisms found possible risk factors thrombotic disorders. The new era genomics proteomics will increase our knowledge on improve their diagnosis, but provide basis antithrombotic therapies.