SNP Shot: Genomic Insights

Factor V deficiency is an uncommon bleeding disorder. Its symptoms can appear at any age, but the most serious instances often manifest in childhood. Common symptoms include nosebleeds, easy bruising, skin discoloration from bleeding, gum bleeding, and extended or profuse bleeding after surgical procedures, injuries, or delivery. Women with factor V deficiency may experience heavy or prolonged menstrual periods (menorrhagia). Bleeding into joints (hemarthrosis) is possible, though infrequent. Individuals with severe factor V deficiency are at greater risk for internal bleeding within the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the digestive system, which can be life-threatening.

Inheritance:

Factor V deficiency follows an autosomal recessive inheritance pattern. This means that both copies of the F5 gene in each cell must have mutations for the condition to develop. Individuals with a mutation in only one copy of the F5 gene have lower levels of coagulation factor V in their blood and might experience mild bleeding issues, but most experience no health problems.