Diagnosis of Bernard-Soulier syndrome and Glanzmann's thrombasthenia with a monoclonal assay on whole blood.
Two hereditary platelet disorders, Bernard-Soulier syndrome and Glanzmann's thrombasthenia, are characterized by selective deficiencies of platelet membrane glycoproteins. Murine monoclonal antibodies were developed against platelet membrane glycoprotein Ib and against the glycoprotein IIb/IIIa complex. A rapid whole blood assay for the deficiency of these glycoproteins was developed and used to study whole blood samples from six patients with Glanzmann's thrombasthenia and three patients with Bernard-Soulier syndrome. Patients with type I and type II Glanzmann's thrombasthenia were easily detectable with this assay. This permits the diagnosis of these disorders on 200 microliters of whole blood within 2 h of blood sampling.
D000818:Animals; D000911:Antibodies, Monoclonal / Q000032:analysis*; D000918:Antibody Specificity; D001345:Autoradiography; D001791:Blood Platelet Disorders / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D002462:Cell Membrane / Q000276:immunology; D006023:Glycoproteins / Q000276:immunology; D006801:Humans; D051379:Mice; D008807:Mice, Inbred BALB C
D000911:Antibodies, Monoclonal; D006023:Glycoproteins