Factor_XIII_deficiency
Factor XIII deficiency
Medical condition
Factor XIII deficiency occurs exceedingly rarely, causing a severe bleeding tendency. The incidence is one in a million to one in five million people, with higher incidence in areas with consanguineous marriage such as Iran that has the highest global incidence of the disorder.[1] Most are due to mutations in the A subunit gene (located on chromosome 6p25-p24). This mutation is inherited in an autosomal recessive fashion.
Deficiency of Factor XIII leads to defective cross-linking of fibrin and vulnerability to late re-bleeds when the primary hemostatic plug is overwhelmed. Bleeding tendencies similar to hemophiliacs develop, such as hemarthroses and deep tissue bleeding.
As Factor XIII is composed of two subunit protein, A and B, for which the genes are located on different chromosomes, administration of recombinant A subunit improves clot stability and is becoming a therapeutic option for patients with this condition.[2][3]