title: Variation in surface platelet glycoprotein Ib expression in Bernard-Soulier syndrome.
abstract: Seven patients with Bernard-Soulier syndrome (BSS) and 15 presumed heterozygotes of BSS from four families are presented. Evaluation of their platelet membranes was performed by an enzyme-linked radioimmunosorbent assay (ELISA) technique including monoclonal antibodies specific for glycoprotein (GP) Ib and GPIIb/IIIa. Analyses of platelets from the patients revealed 6-33% of the normal GPIb concentration; siblings showed nearly equal amounts of this component. One of the relatives had 44% of the normal level, while 85-98% (mean 92%) of the normal GPIb content was observed in the remaining relatives. Normal or slightly elevated levels of GPIIb/IIIa were detected in the patients as well as in the relatives. All relatives had normal platelet count, size distribution, bleeding time, and ristocetin-induced platelet aggregation. The patients and their relatives may account for a biological variation in GPIb expression or may represent a variant type of BSS.
authors.affiliation: Department of Internal Medicine and Haematology, Aalborg Hospital, Denmark.
authors.forename: L O
authors.initials: LO
authors.lastname: Poulsen
authors.forename: E
authors.initials: E
authors.lastname: Taaning
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000911:Antibodies, Monoclonal / Q000276:immunology; D001606:Bernard-Soulier Syndrome / Q000097:blood*; D001780:Blood Coagulation Tests; D001791:Blood Platelet Disorders / Q000097:blood*; D004797:Enzyme-Linked Immunosorbent Assay; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D010979:Platelet Function Tests; D010980:Platelet Membrane Glycoproteins / Q000032:analysis* / Q000172:deficiency / Q000276:immunology
chemical_list: D000911:Antibodies, Monoclonal; D010980:Platelet Membrane Glycoproteins