A case of Bernard-Soulier syndrome: study of platelet glycoprotein Ib in a kindred.

Abstract

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).

• Authors: J Ingerslev, S Stenbjerg, E Taaning
• Journal: European journal of haematology (Eur J Haematol) Vol. 39 Issue 2 Pg. 182-4 (Aug 1987) ISSN: 0902-4441 [Print] England
• PMID: 3666106 (Publication Type: Case Reports, Journal Article)

Chemical References

• Antibodies, Monoclonal
• Platelet Membrane Glycoproteins

Topics

• Antibodies, Monoclonal
• Blood Platelet Disorders (blood, diagnosis, genetics)
• Child
• Humans
• Male
• Pedigree
• Platelet Membrane Glycoproteins (metabolism)