Bernard-Soulier syndrome: diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients.

Abstract

Two unrelated patients with Bernard-Soulier syndrome and their relatives were studied. The patients demonstrated severe bleeding diathesis, the relatives were asymptomatic. The propositi showed the characteristic abnormalities of the syndrome: thrombocytopenia, a percentage of giant platelets higher than 65%, prolonged bleeding time and defective platelet aggregation to ristocetin and bovine plasma. On the contrary, in the heterozygotes, the typical abnormalities were not fully evident. We introduce a simple ELISA method for the precise definition of both homozygous and heterozygous states for the syndrome by the quantitation of platelet glycoprotein (GP) Ib. Specific binding of monoclonal antibodies anti-platelet GPIb was performed both by direct binding of radioiodinated antibody and by ELISA. Comparable results were obtained. In fact, we demonstrated near absence of GPIb in the 2 propositi and about half the amount in the heterozygotes studied compared to normal platelets.

• Authors: L De Marco, F Fabris, A Casonato, P Fabris, M G Dal Ben, A Barbato, A Girolami
• Journal: Acta haematologica (Acta Haematol) Vol. 75 Issue 4 Pg. 203-8 ( 1986) ISSN: 0001-5792 [Print] Switzerland
• PMID: 3096050 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Antibodies, Monoclonal
• Platelet Membrane Glycoproteins

Topics

• Adolescent
• Antibodies, Monoclonal
• Bernard-Soulier Syndrome (blood, diagnosis, genetics)
• Blood Platelet Disorders (diagnosis)
• Blood Platelets (analysis, immunology)
• Child
• Enzyme-Linked Immunosorbent Assay
• Female
• Genetic Carrier Screening
• Homozygote
• Humans
• Male
• Pedigree
• Platelet Membrane Glycoproteins (analysis, immunology)