SNP Shot: Genomic Insights

Prothrombin deficiency is a condition that impairs blood clotting, leading to slower clot formation. Individuals affected by this disorder often bleed for a longer period than normal after injuries, surgical procedures, or dental extractions. In more severe cases, significant bleeding can occur following minimal trauma or even without any apparent cause (spontaneous bleeding). Women with prothrombin deficiency may experience extended and unusually heavy menstrual periods. Bleeding into areas like joints, muscles, the brain, or other internal organs can lead to serious health problems. Individuals with less severe prothrombin deficiency may not experience spontaneous bleeding, and the condition might only be discovered after an operation or a major injury.

Inheritance:

Prothrombin deficiency is passed down through an autosomal recessive inheritance pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, to develop the condition. The parents, who each carry only one copy of the mutated gene, are usually unaffected and do not exhibit any signs or symptoms of the deficiency.