Genetics of inherited platelet disorders

Summary

The 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 trauma. Therefore, biochemical and molecular genetic characterization of inherited platelet disorders is important to understand these disorders and to support an efficient therapy.

Zusammenfassung

Dieser Review beschreibt angeborene Thrombozytopathien, deren klinischen Phänotyp sowie die verursachenden molekulargenetischen Defekte. Thrombozyten sind die Schlüsselproteine, die mittels Adhäsion, Aktivierung und Thrombusbildung an der Verletzungsstelle zur Hämostase beitragen. Die angeborenen Thrombozytopathien werden entsprechend des Thrombozytendefekts eingeteilt: Rezeptor-/Zytoskelett-, Sekretionsoder Signaltransduktionsdefekt.

Patienten mit angeborener Thrombozytopathie leiden unter Schleimhautblutungen (Nasenund Zahnfleischblutungen) und können sogar lebensbedrohliche Blutungen im Rahmen von Operationen und Unfällen entwickeln. Daher ist die biochemische und molekulargenetische Charakterisierung der angeborenen Thrombozytopathien wichtig zum Verständnis dieser Erkrankungen und zur Unterstützung einer effizienten Therapie.

Keywords

Platelets - inherited platelet disorders - molecular genetics - bleeding disorder

Schlüsselwörter

Thrombozyten - angeborene Thrombozytopathien - molekulare Genetik - Blutungsneigung

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