Clinical utility gene card for: Glanzmann thrombasthenia

Glanzmann's thrombasthenia: pathogenesis, diagnosis, and current and emerging treatment options

“…The calcium binding sites involved in complex formation and platelet-platelet adherence are located on the β-propeller region of the αIIb subunit. 6 The receptor head functionality – binding fibrinogen, VWF, vitronectin and fibronectin – is necessary for platelet aggregation. ITG αIIbβ3 controls cell-to-cell communications by regulation of cell migration, platelet aggregation and adhesion, and the formation of a thrombus.…”

“…Roughly 100,000 copies of the GPIIb/IIIa receptor are expressed along a platelet’s surface, which differs by two-fold between individuals. 6 , 23 The gene ITGA2B, located on chromosome 17q21.31, codes for the platelet GPαIIb, while the gene ITGB3 encoding for the glycoprotein subunit IIIa lies on chromosome 17q21.32. Mutations have been found more commonly in the ITGA2B gene, possibly due to the voluminous number of exons when compared to the ITGB3 gene (30 compared to 15).…”

Identification ofITGA2BandITGB3Single-Nucleotide Polymorphisms and Their Influences on the Platelet Function

“…The ITGA2B spanning 17 kb has 30 exons, whereas the ITGB3 spanning 46 kb has 15 exons; they are closely located on chromosome 17q21.32 without evidence for coordinated expression [5]. A few studies have linked single-nucleotide polymorphisms (SNPs) in ITGA2B and ITGB3 with increased or decreased platelet responses to various agonists and the risk of acute coronary syndrome and atherosclerosis [6–8].…”

Glanzmann's Thrombasthenia , Correlation by Flow , Platelet Aggregometry and Platelet Function Assay ( PFA )

“…GT is an autosomal recessive disease; patients are mostly compound heterozygotes for ITGA2B or ITGB3 mutations. ITGA2B gene encodes for the aIIb subunit, whereas ITGB3 gene encodes for b3 2,8 .…”