SNP Shot: Genomic Insights

Hereditary antithrombin deficiency is a blood clotting disorder that increases the likelihood of developing unusual blood clots. Individuals with this condition face a greater risk of deep vein thrombosis (DVT), a type of clot that forms in the deep veins of the legs. They are also more susceptible to pulmonary embolism (PE), a clot that travels to the lungs via the bloodstream. In those with hereditary antithrombin deficiency, blood clots typically occur in veins, though arterial clots are rare.

Approximately 50% of individuals with hereditary antithrombin deficiency will experience at least one abnormal blood clot in their lives, often after adolescence.

Several factors can further elevate the risk of blood clots in individuals with this deficiency. These include advancing age, surgical procedures, and prolonged immobility. Co-inheritance of other blood clotting disorders can also play a role. Women with hereditary antithrombin deficiency are at a higher risk of developing blood clots during pregnancy or immediately postpartum. They may also face an increased risk of miscarriage or stillbirth.

Inheritance:

Hereditary antithrombin deficiency is usually inherited in an autosomal dominant fashion. This means that only one altered copy of the SERPINC1 gene in each cell is enough to cause the condition. Inheriting two altered copies of this gene is generally lethal; however, rare cases of severely affected individuals with mutations in both SERPINC1 gene copies have been documented.