Glanzmann Thrombasthenia - DOAJ

Glanzmann thrombasthenia and its perioperative management in head trauma: A rare and challenging situation

Patients with this disease may have uncontrollable bleeding after trauma. Patients with a history of platelet transfusion may be refractory to the same, as patients generally have a history of platelet transfusion. In refractory cases and patients with antibodies against platelets, Recombinant factor VIIa can be used to control bleeding. Since routine coagulation tests are not able to detect anomaly, there is the need for advanced perioperative coagulation screening spot tests in emergency trauma settings.

Source link: https://doi.org/10.4103/2348-0548.173235

Combination of acquired von Willebrand syndrome (AVWS) and Glanzmann thrombasthenia in monoclonal gammopathy of uncertain significance (MGUS), a case report

In an elderly patient with monoclonal gammopathy of uncertain significance, two acquired bleeding disorders, Acquired von Willebrand syndrome and Acquired Glanzmann's thrombosthenia, is unusual clinical presentation of two rare autoimmune disorders, according to this case report. Because of the rapid concomitant endogenous drop in von Willebrand factor, the patient in this research showed platelet aggregometry, which was atypical for isolated Glanzmann's thrombosthenia. In this instance, the patient had a partial reaction to intravenous immunoglobulin, confirming the immunological pathogenesis. With the possibility of a predisposing factor, this case illustrates the need to investigate diagnosed bleeding disorders in patients.

Source link: https://doi.org/10.1186/s12959-018-0184-2

Modeling Glanzmann thrombasthenia using patient specific iPSCs and restoring platelet aggregation function by CD41 overexpression

In this research, we isolated pluripotent stem cells from skin fibroblasts of a GT patient with complicated heterogeneous mutations of the ITGA2B gene. In addition, exogenous expression of the wild-type ITGA2B gene in GT-iPS platelets restored CD41 expression and normal platelet aggregation. Our analysis showed that patient-specific iPSCs may be a potential target of stem cell based gene therapy for platelet disease.

Source link: https://doi.org/10.1016/j.scr.2017.02.003

Evaluation of platelet surface glycoproteins in patients with Glanzmann thrombasthenia: Association with bleeding symptoms

Methods: By flow cytometry, five hundred one patients of GT diagnosed by platelet aggregation studies were screened for the presence of CD41, CD61, CD42a, and CD42a on platelet surface. Type I, six patients as type II or GT variants, were classified as type II, six patients as type II or GT variants, with near-normal concentrations of CD41 and CD61. Patients with Type III GT patients had significantly reduced numbers of acute bleeders, but the severity of bleeding did not differ significantly between type I and II GT patients. Mean CD41 levels in all GT patients were found to be lower than mean CD61 expressions. Patients with Type III and II GT patients had significantly reduced incidences of severe bleeders, but the severity of bleeding did not differ significantly between type I and II GT patients.

Source link: https://doi.org/10.4103/ijmr.IJMR_718_14

Excellent Outcome Following Sibling Peripheral Blood Hematopoietic Stem Cell Transplantation for Glanzmann Thrombasthenia: A Case Report

Glanzmann thrombasthenia is a rare autosomal recessive platelet disorder due to a quantitative or quantitative variation of the platelet membrane glycoprotein GPIIb/IIIa. Allo-HSCT is the only medically proven method for GT. paraphrasedoutput stem cell transplantation in a 2-year-old boy with GT who was successfully treated by similar peripheral blood stem cell transplantation. A treatment option for GT may be Hematopoietic stem cell transplantation with full-matched donors in an early stage.

Source link: https://doi.org/10.3389/fped.2021.776927

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