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A case of Bernard‐Soulier syndrome: Study of platelet glycoprotein Ib in a kindred
Author(s) -
Ingerslev J.,
Stenbjerg S.,
Taaning E.
Publication year - 1987
Publication title -
european journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.904
H-Index - 84
eISSN - 1600-0609
pISSN - 0902-4441
DOI - 10.1111/j.1600-0609.1987.tb00751.x
Subject(s) - bernard–soulier syndrome , immunoperoxidase , platelet , ristocetin , glycoprotein , medicine , monoclonal antibody , blood platelet disorders , platelet membrane glycoprotein , immunology , von willebrand disease , antibody , pathology , platelet aggregation , microbiology and biotechnology , von willebrand factor , biology
The Bernard‐Soulier syndrome is characterized by low platelet counts, abnormally large (giant) platelets, and impaired or absent platelet aggregation by the inducer antibiotic ristocetin. The recent discovery of the inherited biochemical defect and the deficient synthesis of platelet glycoprotein Ib (GP‐Ib), has contributed greatly to the understanding of the disease. We report a case of the Bernard‐Soulier syndrome presenting with bleeding from the pharynx after adenotomy. The patient and nearest family members were studied by a novel immunoperoxidase method for quantification of platelet glycoprotein Ib using a specific monoclonal antibody (AN51).