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February 25, 2009Acta Haematologica

Bernard-Soulier Syndrome: Diagnosis by an ELISA Method Using Monoclonal Antibodies in 2 New Unrelated Patients

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Why the study?

Can an ELISA method using monoclonal antibodies accurately quantify platelet GPIb to diagnose homozygous and heterozygous states of Bernard-Soulier syndrome?

Population

2 unrelated patients with Bernard-Soulier syndrome and their asymptomatic relatives.

Comparison

ELISA method using monoclonal antibodies… vs Direct binding of radioiodinated antibody and…

Design

Case_series

Authors

LMLuigi De MarcoDelfos HospitalFFFabrizio FabrisUniversity of MessinaACAlessandra CasonatoUniversity of Padua

Discussion

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Overview

May support ELISA for GPIb quantification in Bernard-Soulier cases; leaves open validation before routine diagnostic use.

Structured PICO

Can an ELISA method using monoclonal antibodies accurately quantify platelet GPIb to diagnose homozygous and heterozygous states of Bernard-Soulier syndrome?

P
Population
2 unrelated patients with Bernard-Soulier syndrome (severe bleeding diathesis, thrombocytopenia, >65% giant platelets, prolonged bleeding time) and their asymptomatic relatives.
I
Intervention
ELISA method using monoclonal antibodies anti-platelet GPIb
C
Comparator
Direct binding of radioiodinated antibody and normal platelets
O
Outcome
Quantitation of platelet glycoprotein (GP) Ib to define homozygous and heterozygous statessurrogate

An ELISA method using monoclonal antibodies provides a simple and precise way to quantify platelet GPIb for diagnosing homozygous and heterozygous Bernard-Soulier syndrome.

Cite This Study

Marco et al. (2009) studied this question.

synapsesocial.com/papers/6a911df901e1e58c2c70f5dchttps://doi.org/10.1159/000206125
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Molecular defect in platelets from patients with bernard-soulier syndrome1977 · 3 citations
  2. 2Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis1983 · 16 citations
  3. 3Additional glycoprotein defects in Bernard-Soulier's syndrome: confirmation of genetic basis by parental analysis1983 · 180 citations
  4. 4Residual amounts of glycoprotein Ib concomitant with near-absence of glycoprotein IX in platelets of Bernard-Soulier patients1988 · 29 citations
  5. 5Phospholipase C activity in platelets from Bernard-Soulier syndrome patients.1993 · 4 citations