Bleeding disorder platelet-type 9
Bleeding disorder platelet-type 9 is a Glycoprotein 1a deficiency. It 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.[^]