Dense granules were normally present. Platelet aggregation with collagen was severely decreased, as was the response to convulxin (Cvx), a GPVI agonist. [ncbi.nlm.nih.gov]

• Fishing

  Fish also have platelets named thrombocytes, and switching off the NBEAL2 gene in fish caused a complete absence of these cells which resulted in nearly half of the fish suffering spontaneous bleeds similar to patients with the disorder. [sciencedaily.com]

  Cytogenetic analysis of BM was normal and fluorescent in situ hybridization (FISH) for common genetic aberrations indicating myelodysplastic disease was negative. [dx.doi.org]

• Soft Tissue Mass

  A 3.4-cm right frontal osseous cavity and an overlying right forehead subcutaneous soft-tissue mass were seen, measuring 5.2 cm in diameter and 1.6 cm thick. [ncbi.nlm.nih.gov]

There is no specific treatment for GPS, but management involves anticipating and preventing risks of bleeding (e.g. possible platelet transfusions before surgery). Treatment may also include administration of desmopressin. [rarediseases.info.nih.gov]

Treatment There is no curative treatment for gray platelet syndrome although it can be managed. Patients must avoid medications that impair functioning of platelets such as aspirin. [medigest.uk]

Platelets from both patients had severe deficiency of beta TG either after tritonization (less than 4% of normal) or thrombin treatment (less than 15% of normal), and the plasma beta TG levels were slightly increased. [ncbi.nlm.nih.gov]

Most people with storage pool deficiencies only need treatment during surgical procedures (including dental work) and after injury or trauma. [wfh.org]

Diagnosis - Gray platelet syndrome Home medical testing related to Gray platelet syndrome: * Fatigue: Related Home Tests: o Home Anemia Tests o Home Thyroid Function Tests o Home Adrenal Function Tests o Home Calcium Deficiency Tests o Home HIV Tests Prognosis [checkorphan.org]

Newer therapies such as recombinant activated factor VIIa (rFVIIa) may have a role in some platelet disorders. [ 13 ] Prognosis [ 2 ] The overall prognosis is good. No fatal bleeds have been reported. [patient.info]

The prognosis is generally good The factors that create a very favorable outcome are when GPS is detected early and careful medical follow-up with appropriate and timely treatment is given If the platelet count is less than 30,000/microliter, then a severe [dovemed.com]

Prognosis is generally good early in life when thrombocytopenia is mild. [rarediseases.info.nih.gov]

(Etiology) Anomalous genetic mutations in gene ‘NBEAL2’ is said to cause Grey Platelet Syndrome. [dovemed.com]

[…] thrombasthenia 1 in 1,000,000 Autosomal recessive Bernard-Soulier syndrome < 1 in 1,000,000 Autosomal recessive Gray platelet syndrome Rare Autosomal dominant, recessive or X-linked recessive Wiskott-Aldrich syndrome 1 in 1,000,000 X-linked recessive Etiology [pathologyoutlines.com]

Escherichia coli O157:H7 is the most frequent, although not only, etiologic serotype. [slideshare.net]

Although the experiment did not address the function of α-granules in thrombocytes, these results support the essential role of the Nbeal2 protein in thrombopoiesis and the etiology of GPS. [ncbi.nlm.nih.gov]

The minimum criteria for the diagnosis of TTP are thrombocytopenia and microangiopathic hemolytic anemia without an apparent etiology. [emedicine.medscape.com]

EDTA-dependent pseudothrombocytopenia: a clinical and epidemiological study of 112 cases, with 10-year follow-up. Am J Hematol. 1995; 50: 103–109. CrossRef PubMed Google Scholar 11. Hoyt RH, Durie BG. [link.springer.com]

Organization of medical conditions provides a brief overview of the basic disease process, epidemiology, pathophysiology, signs and symptoms, laboratory findings, and currently accepted medical therapy of each disorder. [books.google.de]

Knolle, Kristian Unger, Lars Zender, Bernhard Nieswandt, Meinrad Gawaz, Achim Weber & Mathias Heikenwalder Nature Medicine (2019) Inherited Macrothrombocytopenia: Correlating Morphology, Epidemiology, Molecular Pathology and Clinical Features Kanjaksha [doi.org]

The platelets are large and have a grey appearance on light microscopy. [ 1 ] It is one of the macrothrombocytopenias, which are inherited thrombocytopenias with increased platelet size. [ 2 ] Epidemiology and inheritance Grey platelet syndrome (GPS) [patient.info]

The causative gene and underlying pathophysiology are largely unknown. [ncbi.nlm.nih.gov]

By concisely combining cutting-edge explanations of disease pathophysiology with practical approaches to the diagnosis and management of hematologic disorders, it provides an invaluable vade mecum for today's physicians and students needing to keep up [books.google.de]

Vermylen is Professor of Internal Medicine, University of Leuven, Belgium Valentin Fuster is Professor of Medicine, Mount Sinai Medical Center and School of Medicine, New York معلومات المراجع العنوان Platelets in Thrombotic and Non-Thrombotic Disorders: Pathophysiology [books.google.com]

Thus, the pathophysiology of this disease is similar to that of the hemolytic disease of newborns. Unlike hemolytic disease, however, thrombocytopenia occurs during the first pregnancy in 50% of cases. [emedicine.medscape.com]

Precautions can be taken in order to prevent an individual with GPS from bleeding to death. Dental care : Individuals with GPS should adhere to a strict schedule of preventive dental care in order to prevent bleeding of the gums. [wellness.com]

Abstract The Gray platelet syndrome (GPS) is a rare inherited disorder linked to undefined molecular abnormalities that prevent the formation and maturation of alpha-granules. [ncbi.nlm.nih.gov]

Prevention - Gray platelet syndrome Not supplied. [checkorphan.org]

The scarring associated with myelofibrosis damages bone marrow, preventing it from making enough blood cells. [ghr.nlm.nih.gov]