Glanzmann's thrombasthenia

The Glanzmann thrombasthenia ( Glanzmann - Naegeli or syndrome, Crohn's Glanzmann - Naegeli by Eduard Glanzmann, Swiss pediatrician 1887-1959 ) is a rare hereditary thrombocytopathy, which can lead to a greatly increased tendency to bleed.

It is caused by defects in the genes for GPIIb or GPIIIa. As a result of the GPIIb / GPIIIa receptor on platelets is defective or it is missing completely, resulting in a lack of aggregation of platelets ( as in primary hemostasis occurs). In addition, the adhesion to von Willebrand factor and fibronectin is disturbed that are bound next to the platelet fibrinogen crosslinking the activated GPIIb / IIIa receptor.

A knock-out one of the two genes in mice leads to a Glanzmann - like phenotype in the animals.