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Gray platelet syndrome

Gray platelet syndrome
#00015767
Author: Alan D. Michelson
Category: Platelet and Megakaryocyte Disorders > Thrombocytopenia > Decreased Platelet Production
Published Date: 01/10/2013

A 5-year-old girl was treated for 4 years based on a diagnosis of immune thrombocytopenia (ITP). When she presented for a second opinion, she met all criteria for ITP except that inspection of her peripheral blood smear showed large platelets with a complete lack of granulation, indicating a diagnosis of gray platelet syndrome (GPS), confirmed by electron microscopy .The name GPS comes from the gray appearance of the platelets as a result of the absence of a-granules. GPS is due to mutations in NBEAL2, which encodes for the neurobeachin-like 2 (NBEAL2) protein, a member of the family of BEACH (BEige And Chediak-Higashi) domain-containing proteins on chromosome 3 (3p21). Patients with GPS have a predisposition to mucocutaneous bleeding and also to develop myelofibrosis. This case illustrates the importance of inspection of the blood smear before making a diagnosis of ITP.