SNP Shot: Genomic Insights

Bernard-Soulier syndrome is a bleeding disorder characterized by problems with platelets, the blood cells crucial for clotting. Individuals with this condition typically have platelets that are larger than normal and present in lower numbers than usual, a condition referred to as macrothrombocytopenia. Common symptoms include easy bruising and frequent nosebleeds (epistaxis). Affected individuals are also prone to unusually heavy or extended bleeding after minor injuries, surgeries, or even spontaneously without any apparent cause. In some instances, bleeding beneath the skin can result in small red or purple spots known as petechiae. Women with Bernard-Soulier syndrome frequently experience excessive or prolonged menstrual bleeding (menorrhagia).

Inheritance:

The majority of Bernard-Soulier syndrome cases are inherited in an autosomal recessive manner. This means that mutations are present in both copies of the GP1BA, GP1BB, or GP9 gene within each cell. Parents of individuals with an autosomal recessive condition each carry one copy of the mutated gene. While most carriers of a single mutated gene copy typically don't display significant symptoms, some might exhibit slightly larger platelets or very mild bleeding issues. In rare instances, Bernard-Soulier syndrome arises from mutations in the GP1BA or GP1BB gene and is inherited in an autosomal dominant pattern. In this case, only one copy of the altered gene in each cell is enough to cause the disorder, and these individuals inherit the condition from a parent who is also affected.