Abstract
Factor XIII, a heterotetrameric proenzyme, is converted to an activated transglutaminase
by thrombin and calcium in the final phases of coagulation. Factor XIII catalyzes
the formation of crosslinks between fibrin monomers and between α2-antiplasmin and
fibrin. These crosslinks mechanically stabilize fibrin against shear stress, enable
red cell retention within the clot, and protect the clot from premature degradation.
Congenital factor XIII deficiency is caused by autosomal recessive mutations, presenting
early in life with a severe bleeding diathesis. Acquired deficiency may be caused
by autoimmunity. Currently available assays for laboratory diagnosis of factor XIII
deficiency include clot solubility assays, quantitative factor XIII activity assays,
factor XIII antigen assays, and genetic testing. The International Society on Thrombosis
and Haemostasis Scientific and Standardization Committee has recommended an algorithm
for the laboratory diagnosis and differentiation of the different forms of factor
XIII deficiency. However, implementation of this algorithm has been limited by technical
and budgetary challenges associated with the currently available factor XIII-specific
assays. The purpose of this review is to discuss the advantages and limitations of
the currently available assays employed for the laboratory diagnosis of factor XIII
deficiency.
Abbreviations:
FXIII (Factor XIII), pFXIII (Plasma Factor XIII), FXIIIa (activated form of blood coagulation FXIII), FXIII-A (Factor XIII A-subunit monomer), FXIII-A2 (Factor XIII A-subunit dimer), FXIII-B (Factor XIII B-subunit monomer), FXIII-B2 (Factor XIII B-subunit dimer), FXIII-A2B2 (subunit structure of plasma FXIII), FXIII-A2* (active A subunit dimer), α2-AP (α2-antiplasmin)Keywords
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Published online: July 15, 2018
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