Genetics of inherited platelet disorders
Gothwal, M.; Sandrock-Lang, K.; Zieger, B. · Zeitschrift für Orthopädie und Unfallchirurgie · 2014 · Heft 02 · S. 133 bis 141
Bibliografische Angaben
Zusammenfassung
SummaryThe current review describes inherited platelet disorders, illustrates their clinical phenotype and molecular genetic defects. Platelets are the key molecules mediating haemostasis via adhesion, activation and clot formation at the site of injury. The inherited platelet disorders can be classified according to their platelet defects: receptor/cytoskeleton defects, secretion disorder, and signal transduction defect.Patients with inherited thrombocytopathia present with mucous membrane bleedings (epistaxis, gingival bleeding) and may present with serious life threatening bleedings following surgery or traum…