Factor XIII Deficiency

Semin Thromb Hemost. 2009 Jun;35(4):426-38. doi: 10.1055/s-0029-1225765. Epub 2009 Jul 13.


Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A (2)B (2)) that is converted into an active transglutaminase (FXIIIa) by thrombin and Ca (2+) in the terminal phase of the clotting cascade. By cross-linking fibrin chains and alpha (2) plasmin inhibitor to fibrin, FXIIIa mechanically stabilizes fibrin and protects it from fibrinolysis. Severe deficiency of the potentially active A subunit (FXIII-A) is a rare but severe hemorrhagic diathesis. Delayed umbilical stump bleeding is characteristic, and subcutaneous, intramuscular, and intracranial bleeding occurs with a relatively high frequency in nonsupplemented patients. In addition, impaired wound healing and spontaneous abortion in women are also features of FXIII deficiency. The extremely rare B subunit deficiency results in milder bleeding symptoms. FXIII concentrate is now available for on-demand treatment and primary prophylaxis. A quantitative FXIII activity assay is recommended as a screening test for the diagnosis of FXIII deficiency. For classification purposes, FXIII-A (2)B (2) antigen in the plasma is first determined, and if decreased, further measurement of the individual subunits is recommended in the plasma and FXIII-A in platelet lysate. Analytical aspects of FXIII activity and antigen assays are discussed in this article. There are no hot-spot mutations in the F13A1 and F13B genes, and the majority of causative mutations are missense/nonsense point mutations.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Ammonia / metabolism
  • Enzyme-Linked Immunosorbent Assay
  • Factor XIII / analysis
  • Factor XIII / genetics*
  • Factor XIII / physiology
  • Factor XIII Deficiency / genetics*
  • Factor XIII Deficiency / therapy
  • Female
  • Fibrinolysin / therapeutic use
  • Genotype
  • Glutamate Dehydrogenase / metabolism
  • Humans
  • Infant, Newborn
  • Phenotype
  • Postpartum Hemorrhage / prevention & control
  • Pregnancy


  • Ammonia
  • Factor XIII
  • factor XIIIb
  • Glutamate Dehydrogenase
  • glutamate dehydrogenase (NAD(P)+)
  • Fibrinolysin