SNP Shot: Genomic Insights

Factor VII deficiency is an uncommon bleeding condition with varying degrees of severity. While symptoms can appear at any age, the most serious cases are often detected in infants. Notably, about one-third of individuals with factor VII deficiency experience no bleeding issues at all. Common symptoms include nosebleeds (epistaxis), gum bleeding, easy bruising, and extended or profuse bleeding after surgery or injury. Less frequently, bleeding into the joints (hemarthrosis) or blood in the urine (hematuria) can occur. Many women with this condition experience heavy or prolonged menstrual periods (menorrhagia). In severe cases, there is a heightened risk of life-threatening bleeding within the skull (intracranial hemorrhage) or the digestive system. While factor VII deficiency typically leads to increased bleeding, some individuals may paradoxically experience excessive blood clotting (thrombosis).

Inheritance:

Congenital factor VII deficiency follows an autosomal recessive inheritance pattern. This means that an individual must inherit two mutated copies of the F7 gene, one from each parent, to develop the condition. The parents, who each carry one copy of the mutated gene, usually do not exhibit symptoms of the deficiency. Acquired factor VII deficiency, on the other hand, is not passed down through families.