Glycoprotein 1a deficiency
Glycoprotein 1a deficiency is an autosomal dominant platelet disorder caused by mutations of the ITGA2 gene. Manifestation starts at birth. Affected individuals tend to skin bruising and hemorrhage. Hematological findings include mild platelet deficiency and dysfunction.
Nieuwenhuis HK et al. () Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia.[^]
Noris P et al. (2006) Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.[^]
Nieuwenhuis HK et al. (1986) Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading.[^]
OMIM.ORG articleOmim 614200 [^]