Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Systematic

Inheritable platelet disorders
Alloimmune thrombocytopenia
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia
Bernard-Soulier syndrome
Bleeding disorder platelet-type 9
ITGA2
Glycoprotein 1a deficiency
IVIC syndrome
MYH9 related disorders
Mediterranean macrothrombocytopenia
Thrombasthenia of Glanzmann and Naegeli
Thrombocythemia 3
Wiskott–Aldrich syndrome

References:

1.

Nieuwenhuis HK et al. () Human blood platelets showing no response to collagen fail to express surface glycoprotein Ia.

[^]
2.

Noris P et al. (2006) Autosomal dominant thrombocytopenias with reduced expression of glycoprotein Ia.

[^]
3.

Nieuwenhuis HK et al. (1986) Deficiency of platelet membrane glycoprotein Ia associated with a decreased platelet adhesion to subendothelium: a defect in platelet spreading.

[^]
4.

OMIM.ORG article

Omim 614200 [^]
Update: April 29, 2019