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Congenital Platelet Dysfunction and von Willebrand Disease
Published in Harold R. Schumacher, William A. Rock, Sanford A. Stass, Handbook of Hematologic Pathology, 2019
A selective deficiency of platelet alpha granules, in which patients have platelets that are deficient in their cellular content of platelet fibrinogen, platelet factor 4, β-thromboglobulin, and platelet-derived growth factor, has also been described. Due to the appearance of these large platelets on peripheral blood films, this disorder is known as the gray platelet syndrome. Platelet function is abnormal with respect to both aggregation and secretion.
Haemostasis: Normal Physiology, Disorders of Haemostasis and Thrombosis
Published in John C Watkinson, Raymond W Clarke, Louise Jayne Clark, Adam J Donne, R James A England, Hisham M Mehanna, Gerald William McGarry, Sean Carrie, Basic Sciences Endocrine Surgery Rhinology, 2018
Elizabeth Jones, Russell David Keenan
Platelet storage pool disorder is a term that covers abnormalities of the granules in the platelet cytoplasm. It includes deficiency of either alpha granules (grey platelet syndrome) or dense granules (MYH9 anomalies, Hermansky-Pudlak etc.) or both.
Hematological problems in the neonate
Published in Prem Puri, Newborn Surgery, 2017
Andrea M. Malone, Owen P. Smith
An extremely rare mild bleeding disorder for which both autosomal dominant and recessive inheritance have been described, gray platelet syndrome is characterized by the platelet’s inability to store alpha granule proteins.17 Thrombocytopenia is mild, platelets are large, and the absence of alpha granule content gives the platelets a gray appearance on blood smears.
An oligogenic case of severe neonatal thrombocytopenia and a purportedly benign variant in GFI1B requiring reinterpretation
Published in Platelets, 2023
Max Frenkel, April Hall, M. Stephen Meyn, Carol A. Diamond
In addition to her quantitative platelet defect, this patient’s large and hypogranulated platelets are qualitatively reminiscent of gray platelet syndrome (GPS). Intriguingly, an autosomal-dominant GPS has been described where the causal defect is a heterozygous nonsense mutation in GFI1B.11 That GFI1B 576 C>T is associated with macrothrombocytopenia (Table I) and that this patient had hypogranulated macrothrombocytes leads to the suggestion that GFI1B 576 C>T might cause a disease that exists on a continuum with gray platelet syndrome. Alternatively, the pale granulations seen on this patient’s peripheral smear may indicate that platelets have been activated. While this is likely contributing, we hypothesize that impaired megakaryocyte differentiation caused by GFI1B 576 C>T may result in a similar phenotype given the existing in vitro evidence that GFI1B 576 C>T inhibits megakaryocyte differentiation, that additional dominant-negative GFI1B variants alter megakaryocyte morphology,11 and given this patient’s corroborating severely elevated TPO.
Megakaryocyte emperipolesis: a new frontier in cell-in-cell interaction
Published in Platelets, 2020
Pierre Cunin, Peter A. Nigrovic
Emperipolesis can increase strikingly in disease. In humans, emperipolesis is abundant in myelofibrosis, where 10–20% of the marrow MKs enclose leukocytes [39]. An even higher prevalence is observed in the inherited macrothrombocytopenia grey platelet syndrome (GPS), with 36–65% of MKs containing leukocytes, often 2–4 per cell [47]. GPS results from a deficiency of NBEAL2 (neurobeachin like 2), a protein involved in normal development and/or retention of platelet α granules. Intriguingly, as in myelofibrosis, GPS MKs exhibit misdirected CD62P expression [47]. Beyond these genetic syndromes, emperipolesis is increased in states associated with increased platelet demand, including myeloproliferative disease, myelodysplastic syndromes, polycythemia vera, reactive thrombocytosis, immune thrombocytopenia, essential thrombocythemia, and blood loss [42,48–51].
Correction of Severe Myelofibrosis, Impaired Platelet Functions and Abnormalities in a Patient with Gray Platelet Syndrome Successfully Treated by Stem Cell Transplantation
Published in Platelets, 2020
Rémi Favier, Xavier Roussel, Sylvain Audia, Jean Claude Bordet, Emmanuel De Maistre, Pierre Hirsch, Anne Neuhart, Isabelle Bedgedjian, Vasiliki Gkalea, Marie Favier, Etienne Daguindau, Paquita Nurden, Eric Deconinck
Gray platelet syndrome (GPS; OMIM #139090) is an inherited platelet disorder first described by Raccuglia[1]. Patients harboring GPS have thrombocytopenia with large platelets lacking α-granules. Mild but occasionally life threatening bleeding is characteristic for this disease [2,3]. A common long-term complication is myelofibrosis which has been suspected to be probably caused by the continued leakage of growth factors and cytokines and α-granules proteins from megakaryocytes into the marrow [2,3]. In 2011 three different teams identified NBEAL2 as the causative gene of this disorder [4–7]. Like GPS patients, mice lacking Nbeal2 expression exhibit macrothrombocytopenia, lack of platelet α-granules, splenomegaly, impaired platelet functions and abnormalities in megakaryocyte development[8]. Here we report the case of a patient with myelofibrosis and an abnormal early severe evolution to aplasia for a patient whose phenotype was completely corrected by a hematopoietic stem cell transplant (HSCT) .