Bernard-Soulier Syndrome, Type A1 (GP1BA)
Bernard-Soulier syndrome, type A1 is an autosomal recessive bleeding disorder caused by pathogenic variants in the gene GP1BA. This pan-ethnic disorder is characterized by mucosal bleeding, small skin hemorrhages, nosebleeds, heavy menstrual periods, and prolonged bleeding time. With modern treatments, life expectancy is not thought to be shortened in the majority of patients. Due to the limited number of reported cases, no genotype-phenotype correlations are known.
For information about carrier frequency and residual risk, please see the residual risk table.