Glanzmann thrombasthenia

Definition:

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding syndrome affecting the megakaryocyte lineage and characterized by lack of platelet aggregation. This disease is caused by mutation in the integrin family receptor genes encoding platelet glycoprotein alpha-IIb or platelet glycoprotein IIIa.

References:

[1]. Alan T Nurden, et al. Glanzmann thrombasthenia. Orphanet J Rare Dis. 2006 Apr 6;1:10. [Content Brief]

[2]. C D Burk, et al. A deletion in the gene for glycoprotein IIb associated with Glanzmann's thrombasthenia. J Clin Invest. 1991 Jan;87(1):270-6. [Content Brief]

[3]. Sona Nair, et al. Glanzmann's thrombasthenia: updated. Platelets. 2002 Nov;13(7):387-93. [Content Brief]

[4]. Vincent Jallu, et al. AlphaIIbbeta3 integrin: new allelic variants in Glanzmann thrombasthenia, effects on ITGA2B and ITGB3 mRNA splicing, expression, and structure-function. Hum Mutat. 2010 Mar;31(3):237-46. [Content Brief]

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