Objective: To diagnose a patient with Bernard-Soulier syndrome (BSS) and investigate her gene abnormality.
Methods: Platelet size and structure were studied under light and electron microscopies. Platelet membrane glycoproteins (GP) were measured by flow cytometry. PCR and DNA sequencing were used to identify gene abnormality.
Results: The patient had thrombocytopenia with giant platelets. Ristocetin-induced platelet agglutination was absent. GP I b/IX complex in the platelet membrane was significantly decreased, which was resulted from an Ala139 Thr substitution in the transmembrane domain of GPIX.
Conclusion: Ala139 Thr mutation of the GPIX gene in this patient is a novel missense mutation, which has not been reported in BSS.