Factor XIII Deficiency

Mehran Karimi; Zsuzsanna Bereczky; Nader Cohan; László Muszbek

doi:10.1055/s-0029-1225765

Seminars in Thrombosis and Hemostasis, Table of Contents

Semin Thromb Hemost 2009; 35(4): 426-438
DOI: 10.1055/s-0029-1225765

Factor XIII Deficiency

Mehran Karimi¹ , Zsuzsanna Bereczky² , Nader Cohan¹ , László Muszbek²

¹Hematology Research Center, Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran
²Clinical Research Center and Thrombosis, Haemostasis and Vascular Biology Research Group of the Hungarian Academy of Sciences, University of Debrecen, Medical and Health Science Center, Debrecen, Hungary

Abstract

ABSTRACT

Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A₂B₂) that is converted into an active transglutaminase (FXIIIa) by thrombin and Ca²⁺ in the terminal phase of the clotting cascade. By cross-linking fibrin chains and α₂ 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-A₂B₂ 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.

KEYWORDS

Bleeding diathesis - factor XIII deficiency - factor XIII measurements - pregnancy loss - wound healing

Full Text

References

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Mehran KarimiM.D.

Professor of Pediatric Hematology-Oncology, Hematology Research Center

Nemazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran

Email: Karimim@sums.ac.ir