Molecular genetics and transfusion management in a child with Bernard Soulier syndrome.
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.
Bowers
Margaret J
MJ
Haematology Department, Ulster Hospital, Dundonald, Belfast, UK. margaret.bowers@ucht.n-i.nhs.uk
Orr
Nick J
NJ
Dempsey
Si
S
Alexander
H Denis
HD
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
D010980:Platelet Membrane Glycoproteins