Bernard-Soulier syndrome: Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1

Luigi De Marco, Fabrizio Fabris, Alessandra Casonato, Pietro Fabris, Maria Grazia Dal Ben, Antonio Barbato, Antonio Girolami

Research output: Contribution to journalArticle

10 Citations (Scopus)

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) lb. 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.

Original languageEnglish
Pages (from-to)203-208
Number of pages6
JournalActa Haematologica
Volume75
Issue number4
DOIs
Publication statusPublished - 1986

Fingerprint

Bernard-Soulier Syndrome
Blood Platelets
Enzyme-Linked Immunosorbent Assay
Monoclonal Antibodies
Heterozygote
Ristocetin
Platelet Membrane Glycoproteins
Bleeding Time
Disease Susceptibility
Platelet Aggregation
Thrombocytopenia
Hemorrhage
Antibodies

Keywords

  • Bernard-Soulier syndrome
  • ELISA method
  • Glycoprotein Ib
  • Monoclonal antibodies

ASJC Scopus subject areas

  • Hematology

Cite this

De Marco, L., Fabris, F., Casonato, A., Fabris, P., Dal Ben, M. G., Barbato, A., & Girolami, A. (1986). Bernard-Soulier syndrome: Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1. Acta Haematologica, 75(4), 203-208. https://doi.org/10.1159/000206125

Bernard-Soulier syndrome : Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1. / De Marco, Luigi; Fabris, Fabrizio; Casonato, Alessandra; Fabris, Pietro; Dal Ben, Maria Grazia; Barbato, Antonio; Girolami, Antonio.

In: Acta Haematologica, Vol. 75, No. 4, 1986, p. 203-208.

Research output: Contribution to journalArticle

De Marco, L, Fabris, F, Casonato, A, Fabris, P, Dal Ben, MG, Barbato, A & Girolami, A 1986, 'Bernard-Soulier syndrome: Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1', Acta Haematologica, vol. 75, no. 4, pp. 203-208. https://doi.org/10.1159/000206125
De Marco, Luigi ; Fabris, Fabrizio ; Casonato, Alessandra ; Fabris, Pietro ; Dal Ben, Maria Grazia ; Barbato, Antonio ; Girolami, Antonio. / Bernard-Soulier syndrome : Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1. In: Acta Haematologica. 1986 ; Vol. 75, No. 4. pp. 203-208.
@article{cf577c655a9748c89208544520f7d028,
title = "Bernard-Soulier syndrome: Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1",
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) lb. 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.",
keywords = "Bernard-Soulier syndrome, ELISA method, Glycoprotein Ib, Monoclonal antibodies",
author = "{De Marco}, Luigi and Fabrizio Fabris and Alessandra Casonato and Pietro Fabris and {Dal Ben}, {Maria Grazia} and Antonio Barbato and Antonio Girolami",
year = "1986",
doi = "10.1159/000206125",
language = "English",
volume = "75",
pages = "203--208",
journal = "Acta Haematologica",
issn = "0001-5792",
publisher = "S. Karger AG",
number = "4",

}

TY - JOUR

T1 - Bernard-Soulier syndrome

T2 - Diagnosis by an ELISA method using monoclonal antibodies in 2 new unrelated patients1

AU - De Marco, Luigi

AU - Fabris, Fabrizio

AU - Casonato, Alessandra

AU - Fabris, Pietro

AU - Dal Ben, Maria Grazia

AU - Barbato, Antonio

AU - Girolami, Antonio

PY - 1986

Y1 - 1986

N2 - 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) lb. 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.

AB - 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) lb. 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.

KW - Bernard-Soulier syndrome

KW - ELISA method

KW - Glycoprotein Ib

KW - Monoclonal antibodies

UR - http://www.scopus.com/inward/record.url?scp=0022981580&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022981580&partnerID=8YFLogxK

U2 - 10.1159/000206125

DO - 10.1159/000206125

M3 - Article

C2 - 3096050

AN - SCOPUS:0022981580

VL - 75

SP - 203

EP - 208

JO - Acta Haematologica

JF - Acta Haematologica

SN - 0001-5792

IS - 4

ER -