Abstract
Bernard-Soulier Syndrome (BSS)is a rare hereditary disorder.Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency. BSS cases are often misdiagnosed as idiopathic thrombocytopenic purpura (ITP). We report here a seven years old girl diagnosed as Bernard-Soulier syndrome with homozygous deletion of 39 nucleotides in the exon 2 of GP1BA. Bernard–Soulier syndrome should be considered before the patient is diagnosed with immune thrombocytopenia.
Highlights
Bernard-Soulier syndrome (BSS) was first known by two French hematologists – Jean Bernard and pierresoulier. They found out a patient from a consanguineous family with severe bleeding episodes, thrombocytopenia and very large platelets [1]
Bernard-Soulier Syndrome (BSS) cases are often misdiagnosed as idiopathic thrombocytopenic purpura (ITP) [5]
We present one girl with causative mutations in GP1BA
Summary
Bernard-Soulier syndrome (BSS) was first known by two French hematologists – Jean Bernard and pierresoulier. They found out a patient from a consanguineous family with severe bleeding episodes, thrombocytopenia and very large platelets [1]. It is a rare hereditary disorder (1:1000000)[2].Platelets in patients with BSS are unable to adhere, leading to an increased bleeding tendency [3].BSS is a platelet function disorder, transmitted in an autosomal recessive manner. These genes stand for a group of linked proteins normally found on the surface of the platelets [5].
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