Glanzmann thrombasthenia: an update.
Glanzmann thrombasthenia (GT) is a rare autosomal recessive disorder characterized by qualitative or quantitative abnormalities of the platelet membrane glycoprotein (GP) IIb/IIIa. Physiologically, this platelet receptor normally binds several adhesive plasma proteins, and this facilitates attachment and aggregation of platelets to ensure thrombus formation at sites of vascular injury. The lack of resultant platelet aggregation in GT leads to mucocutaneous bleeding whose manifestation may be clinically variable, ranging from easy bruising to severe and potentially life-threatening hemorrhages. In this review we discuss the main characteristics of GT, focusing on molecular defects, diagnostic evaluation and treatment strategies.
Servizio di Immunoematologia e Medicina Trasfusionale, Dipartimento di Patologia e Medicina di Laboratorio, Azienda Ospedaliero-Universitaria di Parma, Parma, Italy. mfranchini@ao.pr.it
Massimo
M
Franchini
Emmanuel J
EJ
Favaloro
Giuseppe
G
Lippi
D019411:Clinical Laboratory Techniques; D006801:Humans; D013915:Thrombasthenia / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology