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Glanzmann Thrombasthenia - Crossref

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Last Updated: 02 April 2022

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Patients With Glanzmann Thrombasthenia Lacking Platelet Glycoprotein α IIb β 3 (GPIIb/IIIa) and α v β 3 Receptors Are Not Protected From Atherosclerosis

Patients with Glanzmann thrombosthenia who lack platelet glycoprotein (IB IIIb 3 complexes or both IIb - 3 complexes or both IIIb vs. 3) cells membrane complexes are shielded from the development of atherosclerosis, according to the simplest of these theories. Five of the six patients with early atherosclerosis had both IIb 3 and v 3 complexes, but 1 only lacked IIb 3 complexes, with 5 of the six patients with signs consistent with early atherosclerosis missing both IIb 3 and v 3 complexes, with 5 of the 6 patients with early atherosclerosis lacked both IIb 3 and v l.

Source link: https://doi.org/10.1161/hc0902.104676


How I manage pregnancy in women with Glanzmann thrombasthenia

Women with GTs have a high risk of bleeding during pregnancy and delivery. The newborn can also be affected by fetal and neonatal immune thrombocytopenia caused by maternal anti-IIIb-III antibodies, which may cause severe hemorrhage and fetal loss.

Source link: https://doi.org/10.1182/blood.2021011595


A genetic analysis of integrin function: Glanzmann thrombasthenia in vitro

Glanzmann thrombasthenia, an inheritable bleeding disorder, can be attributed to a defect or deficiency in platelet integrin (Ib 3). The research of thrombosthenia variants has improved identification of locations involved in the operation of IIb 3 and other integrins, which have made it possible. Such pages include those that bind ligand and those that participate in the "activation" of IIb IIIb 3 that are intended for high affinity binders of ligands such as fibrinogen or PAC1, a monoclonal antibody. Here we describe the isolation of such variants, which were produced in vitro with Chinese hamster ovary cells and display an activated form of IIb IIIb 3. A third group of mutants had an integrin activation defect that was not related to mutations in the integrin sequence. This unbiased genetic approach provides new insight into the cellular basis of integrin function and may help in determining the cellular events that control integration in function.

Source link: https://doi.org/10.1073/pnas.94.5.1973


Ser-752-->Pro mutation in the cytoplasmic domain of integrin beta 3 subunit and defective activation of platelet integrin alpha IIb beta 3 (glycoprotein IIb-IIIa) in a variant of Glanzmann thrombasthenia.

Alpha IIb beta 3 should be converted from noncompetent to capable of binding soluble fibrinogen by platelet activation. Although his platelets contained alpha IIb beta 3, the patient's platelets did not bind fibrinogen after platelet activation by ADP or thrombin, but alpha IIb beta 3. However, isolated alpha IIb beta 3 beta 3 was able to bind to an Arg-Gly-Ser affinity column, and a binding of soluble fibrinogen to the patient's platelets may have been triggered by alpha IIb beta 3 modulators such as the Arg-Gly-Asp-Ser peptide and alpha-chymotrypsin. These results revealed that a functional Arg-Gly-Asp binding site was present within alpha IIb beta 3 of alpha IIb beta 3 of a noncompetent conformational state, and that the patient's deterioration was not due to a blockade alpha IIb beta 3 in a noncompetent conformational state. The C-terminal portion of beta 3's cytoplasmic domain of cytoplasmic domain of beta 3 is also identified as an essential component in the coupling between alpha IIb beta 3 and platelet activation, according to our reports.

Source link: https://doi.org/10.1073/pnas.89.21.10169


The molecular genetic basis of Glanzmann thrombasthenia in the Iraqi-Jewish and Arab populations in Israel.

Glanzmann'thrombasthenia is an autosomal recessive bleeding disorder characterized by a decrease or absence of functional platelet glycoprotein IIb-IIIa integrin receptors. We've been investigating two populations with unusually high incidence of Glanzmann disease, Iraqi Jews, and Arabs living in Israel, and we were able to distinguish the populations on the basis of immunodetectable GPIIIa and platelet vitronectin receptor expression. In this article, we discuss molecular genetic studies based on the use of PCR that has enabled us to identify platelet mRNA sequences encoding GPIIb and GPIIIa from patients in these populations. An 11-base deletion was found within exon 12 of the GPIIIa gene in six of six Iraqi-Jewish families tested, according to cDNA sequence analysis. In comparison, a 13-base deletion encompassing exon 4 of the GPIIB gene was found in three of five Arab kindreds studied.

Source link: https://doi.org/10.1073/pnas.88.8.3160


Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets.

Glanzmann thrombosthenia is an inherited bleeding disorder characterized by platelet's inability to aggregate in response to almost all stimuli. However, in the presence of human vWF, thrombasthenic platelets will aggregate with bovine and porcine von Willebrand factor and display normal ristocetin-induced binding and aggregation. In three patients with Glanzmann thrombosthenia, however, we now report that the specific binding of vWF to the thrombin-stimulated platelets was less than 20% of average. Analysis of binding isotherms was based on the assumption that there are only one class of binding sites for vWF on the platelet membrane. In two patients with thrombosthenia binding, the thrombosthenia binding was markedly reduced but did not reach saturation. Also, these findings, in comparison to those published for fibronectin, suggest that the platelet defect in Glanzmann thrombasthenia is not limited to decreased binding of fibrinogen but rather involves a variety of glycoproteins that are known to interact with platelets.

Source link: https://doi.org/10.1073/pnas.79.19.6038


Utility of the ISTH bleeding assessment tool (BAT) in diagnosis of Glanzmann Thrombasthenia patients

Objectives: To determine the effectiveness of ISTH-BAT in the diagnosis of Glanzmann Thrombasthenia in comparison to controls. All patients from neonates to 18 years with a definitive diagnosis of GT were retrospectively examined retrospectively. On SPSS version 26, data was analyzed. Out of 427 patients with suspected platelet function abnormalities, 133 people were diagnosed as GT, with one of them being GT. Patients' cutaneous and oral cavity bleeds were more frequent and frequent in patients than controls. In the control group, the median ISTH-BAT score among patients was nine, while in the control group was one. Conclusion: ISTH-BAT scores in GT patients were significantly higher than those in controls. We also suggest the use of ISTH-BAT in diagnostic testing of patients with suspected Glanzmann Thrombasthenia. https://doi. org/10. 12669/pjms. 38. 461 How to cite this: This is a sample from the ISTH blood analysis tool used in diagnosis of Glanzmann Thrombasthenia patients. Fateen T, Tufail H, Mazher N.

Source link: https://doi.org/10.12669/pjms.38.4.5361


αIIbβ3 variants defined by next-generation sequencing: Predicting variants likely to cause Glanzmann thrombasthenia

We investigated novel missense variants on 32,000 alleles of ITGA2B and ITGB3 and discovered missense variants that affected 10% of the amino acids in each protein in 1. 3 percent of the population. At cut-off values that correctly predicted at least 69% of the known Glanzmann thrombasthenia mutations as deleterious, three variant forecast algorithms estimated that at least 27% of the novel variants are deleterious, with three variant prediction algorithms predicting that at least 27% of the novel variants are deleterious.

Source link: https://doi.org/10.1073/pnas.1422238112


Molecular Genetics Aspects of Factor XI Deficiency and Glanzmann Thrombasthenia

Factor XI deficiency is particularly prevalent in Ashkenazi Jews, with 1:190 people impacted by the acute deficiency and 8. 9% of the population being heterozygotes. So far, four mutations causing factor XI deficiency have been identified, but only in 5 families are found, with type II and III being dominant, and type I and IV being rare. The type II mutation was present in Iraqui-Jews, as well as being heterozygotes in 3. 7% of 400 unrelated subjects, and with complete absence of the type III mutation. Since the original Jewish Jews of Babylon 2500 years ago became Ashkenazi, Sephardic, and Middle Eastern Jews, we suspect the type II mutation is ancient and that the type III mutation occurred more recently. In Israel, fifty living patients with type I Glanzmann thrombasthenia have been observed.

Source link: https://doi.org/10.1159/000217088

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions