Klinik: 

Definition: Die Glanzmann-Thrombasthenie ist eine seltenes autosomal rezessives thrombozytäres Blutungsübel, welche aus der Unfähigkeit von Thrombozyten Fibrinogen zu binden und Aggregate zu bilden resultiert. Zugrunde liegt ein Defekt im Glycoproteinkomplex IIb-IIIa, welcher durch Mutationen in einem der Gene ITGA2B oder ITGB3 entstehen kann.

Diagnostik: 

Differentialdiagnosen: Differentialdiagnostisch muss auch an andere hereditäre thrombozytäre Blutungsübel gedacht werden. Das Bernard-Soulier-Syndrom geht mit Riesenthrombozyten einher.  » » » 

Literatur: 

Nurden AT et al. (2005) Qualitative disorders of platelets and megakaryocytes.
Nurden AT et al. (2006) Glanzmann thrombasthenia.
Newman PJ et al. (1991) The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.
Burk CD et al. (1991) A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia.
Kato A et al. (1992) Molecular basis for Glanzmann's thrombasthenia (GT) in a compound heterozygote with glycoprotein IIb gene: a proposal for the classification of GT based on the biosynthetic pathway of glycoprotein IIb-IIIa complex.
Poncz M et al. (1994) Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.
Schlegel N et al. (1995) The molecular genetic basis of Glanzmann's thrombasthenia in a gypsy population in France: identification of a new mutation on the alpha IIb gene.
Wilcox DA et al. (1994) A single amino acid substitution flanking the fourth calcium binding domain of alpha IIb prevents maturation of the alpha IIb beta 3 integrin complex.
Basani RB et al. (1996) Glanzmann thrombasthenia due to a two amino acid deletion in the fourth calcium-binding domain of alpha IIb: demonstration of the importance of calcium-binding domains in the conformation of alpha IIb beta 3.
Ruan J et al. (1998) Double heterozygosity of the GPIIb gene in a Swiss patient with Glanzmann's thrombasthenia.
Grimaldi CM et al. (1998) Glycoprotein IIb Leu214Pro mutation produces glanzmann thrombasthenia with both quantitative and qualitative abnormalities in GPIIb/IIIa.
Nair S et al. (2005) Mutations in GPIIIa molecule as a cause for Glanzmann thrombasthenia in Indian patients.
Kannan M et al. (2008) Carrier detection in Glanzmann thrombasthenia: comparison of flow cytometry and Western blot with respect to DNA mutation.