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

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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
Issue number4
Publication statusPublished - 1986


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

ASJC Scopus subject areas

  • Hematology


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