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Gray Platelet Syndrome (GPS)

  • Hojat Shahraki
  • Akbar Dorgalaleh
  • Barbara J. Bain
Chapter

Abstract

Gray platelet syndrome (GPS) is a rare, mostly autosomal recessive inherited platelet functional disorder with a mild to moderate bleeding tendency. Most patients with the autosomal recessive manner of inheritance have bi-allelic mutations in the Neurobeachin-like2 (NBEAL2) gene; in patients with autosomal dominant and X-linked GPS, GFI1B and GATA1 genes are affected. Patients with GPS present with macrothrombocytopenia, mild splenomegaly, increased serum vitamin B12, and markedly decreased or absent platelet α-granules. Although mild bleeds are common in GPS, severe life-threatening bleeding occurs in a significant number of patients. Similarly to most other mild inherited platelet function disorders, diagnosis of GPS requires a proper laboratory approach and advanced instruments and diagnostic tests. Supportive care and on-demand therapy is the mainstay of treatment in these patients. Because of the risk of allo-immunization, HLA-matched platelet transfusion should be used. With timely diagnosis and appropriate management of the disorder, severe consequences can be eliminated or significantly decreased and unnecessary treatment can be avoided.

Keywords

Gray platelet syndrome Inherited platelet function disorders Bleeding α-Granules NBEAL2 

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Hojat Shahraki
    • 1
  • Akbar Dorgalaleh
    • 2
  • Barbara J. Bain
    • 3
  1. 1.Department of Laboratory SciencesSchool of Allied Medicine, Zahedan University of Medical SciencesZahedanIran
  2. 2.Department of Hematology and Blood TransfusionSchool of Allied Medicine, Iran University of Medical SciencesTehranIran
  3. 3.Department of HaematologyFaculty of Medicine, Imperial College of Science, Technology and Medicine, St Mary’s Hospital CampusLondonUK

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