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Background: Bernard-Soulier syndrome (BSS) is a hereditary bleeding disorder distinguished by macrothrombocytopenia and prolonged bleeding time resulting from quantitative or qualitative defects in the GPIb/IX/V complex. The aim of this project was to detect GP1BA mutations in BSS patients.
Methodology: Twenty BSS patients (11 males and 9 females) and twenty healthy individuals (12 males and 8 females) were included in this study. The selected regions in the GP1BA gene were amplified and directly sequenced.
Results: DNA sequence analysis revealed three mutations in the GP1BA gene, one of which was novel.
Conclusion: BSS, like other autosomal recessive disorders, is prevalent in communities with high incidence of consanguineous marriage, emphasizing the importance of genetic analysis for confirming the diagnosis and identifying carriers were usually asymptomatic.