Article
Molecular genetic diagnosis of Bernard-Soulier syndrome in Iranian patients: reporting three novel mutations.
Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis - 1 Aug 2026
Ghodratnia Elnaz, Tabibian Shadi, Barati Mahmood, Safa Majid
Abstract excerpt
BACKGROUND: Bernard-Soulier syndrome (BSS), a rare inherited platelet disorder, is characterized by macrothrombocytopenia, typically with mild to moderate thrombocytopenia, and abnormal expression of the GPIb-IX-V complex on the platelet surface. BSS is caused by missense, nonsense, and frameshift mutations in the GP1BA, GP1BB, and GP9 genes. This study aimed to characterize the mutations associated with BSS in...
Topics
- Humans
- Bernard-Soulier Syndrome
- Iran
- Male
- Female
- Mutation
- Child
- Child, Preschool
- Platelet Glycoprotein GPIb-IX Complex