Journal
EXPERT REVIEW OF HEMATOLOGY
Volume 5, Issue 5, Pages 487-503Publisher
TAYLOR & FRANCIS LTD
DOI: 10.1586/EHM.12.46
Keywords
alpha IIb beta 3 integrin; Glanzmann thrombasthenia; inherited bleeding syndrome; platelet aggregation; treatment
Categories
Funding
- INSERM [ANR-08-GENO-028-03]
- GIS Maladies Rares
Ask authors/readers for more resources
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 alpha IIb beta 3, an integrin receptor for adhesive proteins. Coded by the ITGA2B and ITGB3 genes, alpha IIb beta 3 mediates platelet-to-platelet attachment, aggregation and clot retraction. Despite widespread mutation analysis, the reason for the extensive variation in both the severity and intensity of bleeding among affected individuals remains poorly understood. Although genetic defects of ITGB3 affect other tissues where beta 3 is present as alpha v beta 3 (the vitronectin receptor), the bleeding phenotype continues to dominate. The authors now examine the relationship between genotype and phenotype in classic and variant forms of GT, and reassess if the nature of the gene mutation influences bleeding and treatment aimed at restoring hemostasis.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available