Reports a novel GP1BA mutation causing Bernard Soulier syndrome and highlights the challenges of transfusion refractoriness due to allo- and iso-antibodies.
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May signal transfusion refractoriness from allo- and iso-antibodies in novel GP1BA Bernard-Soulier syndrome; leaves optimal management open.
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.
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Bowers et al. (2006) studied this question.
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