Gray platelet syndrome

Definition:

Gray platelet syndrome (GPS) is a mild to moderate bleeding disorder characterized by the presence of macrothrombocytopenia and gray-appearing platelets in a peripheral blood smear. The diagnosis of GPS is based on the absence of platelet alpha-granules as observed by an electron microscope. Analysis of platelet contents in GPS demonstrates significantly decreased levels of several alpha-granule proteins, including (among others) fibrinogen, von Willebrand factor (VWF), thrombospondin, and factor V. While NBEAL2 is the major source of mutations in GPS, other gene variants may give rise to significant alpha-granule deficiencies in platelets.

References:

[1]. Alan T Nurden, et al. Should any genetic defect affecting α-granules in platelets be classified as gray platelet syndrome?. Am J Hematol. 2016 Jul;91(7):714-8. [Content Brief]

[2]. Cornelis A Albers, et al. Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):735-7. [Content Brief]

[3]. G Raccuglia, et al. Gray platelet syndrome. A variety of qualitative platelet disorder. Am J Med. 1971 Dec;51(6):818-28. [Content Brief]

[4]. Jorge Di Paola, et al. Thrombocytopenias due to gray platelet syndrome or THC2 mutations. Semin Thromb Hemost. 2011 Sep;37(6):690-7. [Content Brief]

[5]. Meral Gunay-Aygun, et al. NBEAL2 is mutated in gray platelet syndrome and is required for biogenesis of platelet α-granules. Nat Genet. 2011 Jul 17;43(8):732-4. [Content Brief]

[6]. Walter H A Kahr, et al. Mutations in NBEAL2, encoding a BEACH protein, cause gray platelet syndrome. Nat Genet. 2011 Jul 17;43(8):738-40. [Content Brief]

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