Article
Understanding the genetic basis of Glanzmann thrombasthenia: implications for treatment.
Expert review of hematology - 1 Oct 2012
Nurden Alan T, Pillois Xavier, Nurden Paquita
Abstract excerpt
Glanzmann thrombasthenia (GT) is characterized by mucocutaneous bleeding due to platelets that fail to aggregate in response to physiologic stimuli. GT, a rare inherited disease, is caused by quantitative or qualitative deficiencies of αIIbβ3, an integrin receptor for adhesive proteins. Coded by the ITGA2B and ITGB3 genes, αIIbβ3 mediates platelet-to-platelet attachment, aggregation and clot retraction. Despite...
Topics
- Humans
- Integrin alpha2
- Integrin alphaVbeta3
- Integrin beta3
- Mutation
- Platelet Aggregation
- Polymorphism, Single Nucleotide
- Protein Structure, Tertiary
- Thrombasthenia
