title: Molecular genetics and transfusion management in a child with Bernard Soulier syndrome.
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.
authors.affiliation: Haematology Department, Ulster Hospital, Dundonald, Belfast, UK. margaret.bowers@ucht.n-i.nhs.uk
authors.forename: Margaret J
authors.initials: MJ
authors.lastname: Bowers
authors.forename: Nick J
authors.initials: NJ
authors.lastname: Orr
authors.forename: Si
authors.initials: S
authors.lastname: Dempsey
authors.forename: H Denis
authors.initials: HD
authors.lastname: Alexander
mesh_terms: D001606:Bernard-Soulier Syndrome / Q000235:genetics / Q000628:therapy*; D002648:Child; D005434:Flow Cytometry; D017353:Gene Deletion; D015316:Genetic Therapy; D006801:Humans; D008297:Male; D010980:Platelet Membrane Glycoproteins / Q000096:biosynthesis / Q000235:genetics; D017713:Platelet Transfusion; D017354:Point Mutation
chemical_list: D010980:Platelet Membrane Glycoproteins