Molecular genetics and transfusion management in a child with Bernard Soulier syndrome

Margaret J Bowers, Nick J Orr, Si Dempsey, H Denis Alexander

Research output: Contribution to journalArticlepeer-review

6 Citations (Scopus)

Abstract

We present a case of Bernard Soulier syndrome in a 9-year-old boy caused by a novel genetic mutation. This child was shown to be homozygous for a single nucleotide deletion (c.1077delG) in the GP1BA gene not previously reported. Clinically, the boy has become refractory to platelet transfusions with both allo-antibodies and iso-antibodies and a massive transfusion requirement for ongoing haemorrhage. We describe the critical role that the blood product transfusion continues to play in the management of Bernard Soulier syndrome and discuss therapeutic options in these patients.

Original languageEnglish
Pages (from-to)409-11
Number of pages3
JournalBlood Coagulation and Fibrinolysis
Volume17
Issue number5
DOIs
Publication statusPublished - Jul 2006

Keywords

  • Bernard-Soulier Syndrome
  • Child
  • Flow Cytometry
  • Gene Deletion
  • Genetic Therapy
  • Humans
  • Male
  • Platelet Membrane Glycoproteins
  • Platelet Transfusion
  • Point Mutation
  • Case Reports
  • Journal Article

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