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.

journal_name

Acta Haematol

journal_title

Acta haematologica

authors

De Marco L,Fabris F,Casonato A,Fabris P,Dal Ben MG,Barbato A,Girolami A

doi

10.1159/000206125

subject

Has Abstract

pub_date

1986-01-01 00:00:00

pages

203-8

issue

4

eissn

0001-5792

issn

1421-9662

journal_volume

75

pub_type

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