Factor XIII, a subunit, deficiency ofOMIM Phenotype
Preferred Label : Factor XIII, a subunit, deficiency of;
Type : Phenotype, molecular basis known;
Description : Factor XIII deficiency is an autosomal recessive hematologic disorder characterized
by increased bleeding and poor wound healing. Most cases of congenital factor XIII
deficiency result from mutation in the A subunit (Kangsadalampai et al., 1999). Ichinose
et al. (1996, 2000) proposed a classification of factor XIII deficiency: XIIIA deficiency
(formerly 'type II' F13 deficiency) and;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the factor XIII alpha subunit (F13A1, 134570.0001);
Laboratory abnormalities : Patients with factor XIII alpha subunit deficiency usually also have decreased levels
of plasma factor XIII beta subunit;