Combined Factor V and VIII Deficiency (LMAN1)

Combined factor V and VIII deficiency is an autosomal recessive disorder caused by pathogenic variants the gene LMAN1. The onset of this condition is typically in childhood. This disorder is characterized by: excessive and prolonged bleeding after injury, surgery, or childbirth; heavy or prolonged menstrual bleeding (menorrhagia); nosebleeds (epistaxis); and easy bruising. The life expectancy of this condition is typically normal with proper treatment. No clear genotype-phenotype correlation has been established. Higher incidences of this disorder have been observed in the Mediterranean population.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):