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14 Possible Causes for Platelets Show Defective Activation

  • Severe Autosomal Recessive Macrothrombocytopenia

    Altogether, these results show an unexpected defect in activation and in cytoskeleton reorganization of patient platelets.[doi.org] This could be a consequence of a decrease in FLNa phosphorylation at Ser 2152 in platelets and MKs due to the defect in PKA activity.[doi.org] Indeed, we previously showed in patients with mutated FLNa that low levels of remaining FLNa in platelets (30%) are correlated with abnormal fragmentation of the cytoplasm[doi.org]

  • Glanzmann Thrombasthenia

    The diagnosis was further confirmed by platelet flow cytometry which showed no activity with CD41 and CD61, indicating absent GpIIb/IIIa complex.[learningcenter.ehaweb.org] , but without a platelet aggregation defect (thereby showing that β3 mutations can extend beyond the GT phenotype), characterized 5 members of a family with a heterozygous[doi.org] Platelet aggregation studies revealed defective aggregation with ADP, arachidonic acid, collagen and epinephrine which is consistent with Glanzmann's thrombasthenia.[learningcenter.ehaweb.org]

  • Acquired Von Willebrand Syndrome

    The laboratory features showed a high platelet concentration and a qualitative defect of von Willebrand factor (vWF) with a low normal vWF ristocetin cofactor activity, a[ncbi.nlm.nih.gov]

  • Hemolytic Uremic Syndrome

    […] that the same phenomenon applies to platelets in which dysregulation of complement on the platelet surface leads to platelet activation and aggregation.[doi.org] The FH-E1198Stop mutant exhibited defective binding to platelets and enabled complement deposition on the surface of normal platelets.[doi.org] […] reduced binding capacity to endothelial cells 28 and platelets, 12 as well as reduced complement regulatory activity on the endothelial cell surface. 29 The current study shows[doi.org]

  • Bleeding Diathesis

    Additionally, FCA is able to identify discrete platelet activation defects.[ncbi.nlm.nih.gov] In particular, we show for the first time that a relevant proportion of these patients has an isolated impaired ability to generate COAT platelets--a conceptually new defect[ncbi.nlm.nih.gov] CONCLUSION: Our work confirms that storage pool defects are frequent in patients with a bleeding diathesis and normal coagulation and platelet aggregations studies.[ncbi.nlm.nih.gov]

  • Gray Platelet Syndrome

    Platelet function studies showed a marked reduction of aggregation and Ca(2 ) mobilization by thrombin, protease-activated receptor 1 (PAR1)-activating peptide (AP) and PAR4[ncbi.nlm.nih.gov] A 14-year-old boy had bleeding diathesis, mild thrombocytopenia, giant platelets with severe defect of alpha-granule secretory proteins, myelofibrosis and splenomegaly.[ncbi.nlm.nih.gov]

  • Aspirin-induced Platelet Defect

    Disorders of platelet procoagulant activity (Scott syndrome) Scott syndrome is a rare congenital platelet functional disorder.[mlo-online.com] In general, patients with signaling defects show decreased primary aggregation and decreased granule release without granule deficiency.[mlo-online.com] Identification of the exact defect requires detailed biochemical and genetic studies, not available in most laboratories.[mlo-online.com]

  • Bernard-Soulier Syndrome

    Laboratory studies can detect the defective gene responsible for these platelet disorders.[ispub.com] They have both an increased resting procoagulant state and do not show a normal increase in procoagulant activity after stimulation.[ispub.com]

  • Noonan Syndrome-Like Disorder with Juvenile Myelomonocytic Leukemia

    Coagulation screening tests such as prothrombin time, activated partial thromboplastin time, platelet count, and bleeding time may show abnormalities.[chop.edu] In addition to these clinical findings, coagulation (blood clotting) defects may be present in patients with Noonan syndrome.[chop.edu]

  • Noonan Syndrome

    Coagulation screening tests such as prothrombin time, activated partial thromboplastin time, platelet count, and bleeding time may show abnormalities.[chop.edu] In addition to these clinical findings, coagulation (blood clotting) defects may be present in patients with Noonan syndrome.[chop.edu]

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