Factor XIII deficiency: a review of literature

Coagulation factor XIII gene, protein structure and function Coagulation factor XIII (FXIII) is a tetrameric (FXIII-A2B2) pro-transglutaminase enzyme with an essential role in the final stage of coagulation cascade by cross linking the fibrin monomers and stabilizing the fibrin clot. Congenital FXIII deficiency is a rare bleeding disorder, with an autosomal recessive trait inheritance, and a frequency of about 1 in 2 million people. Most cases of FXIII deficiency are associated with FXIII-A subunit deficiency and only few FXIII-B subunit deficiencies have been reported. Severe FXIII-A deficiencies are associated with some moderate to severe clinical complications including umbilical bleeding during infancy, impaired wound healing, pregnancy loss in affected women, life-threatening intracranial bleeding and also subcutaneous and soft tissue bleeding. Diagnosis of FXIII deficiency can be achieved by clot solubility tests in 5 M urea or 1% monochloracetic acid as a screening assay, and also quantitative evaluation of the activity or antigenic levels of FXIII A and B subunits. There have been recommendations for primary prophylaxis or replacement therapy in FXIII deficient patients, in order to prevent spontaneous bleeding, bleeding during minor and major surgeries, or prevention of pregnancy loss in women. Acquired FXIII deficiency has also been reported as a result of decreased production or high consumption of FXIII as well as the secretion of autoantibodies against FXIII subunits