Factor XIII deficiency

Mehran Karimi, Z. Bereczky, Nader Cohan, L. Muszbek

Research output: Contribution to journalArticle

140 Citations (Scopus)

Abstract

Factor XIII (FXIII) is a tetrameric zymogen (FXIII-A2B 2) 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-A 2B2 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.

Original languageEnglish
Pages (from-to)426-438
Number of pages13
JournalSeminars in Thrombosis and Hemostasis
Volume35
Issue number4
DOIs
Publication statusPublished - Jun 2009

Fingerprint

Factor XIII Deficiency
Factor XIII
Fibrin
Hemorrhage
Hemorrhagic Disorders
Umbilicus
Antigens
Antifibrinolytic Agents
Enzyme Precursors
Transglutaminases
Nonsense Codon
Fibrinolysis
Spontaneous Abortion
Missense Mutation
Point Mutation
Thrombin
Wound Healing
Blood Platelets

Keywords

  • Bleeding diathesis
  • Factor XIII deficiency
  • Factor XIII measurements
  • Pregnancy loss
  • Wound healing

ASJC Scopus subject areas

  • Hematology
  • Cardiology and Cardiovascular Medicine

Cite this

Factor XIII deficiency. / Karimi, Mehran; Bereczky, Z.; Cohan, Nader; Muszbek, L.

In: Seminars in Thrombosis and Hemostasis, Vol. 35, No. 4, 06.2009, p. 426-438.

Research output: Contribution to journalArticle

Karimi, Mehran ; Bereczky, Z. ; Cohan, Nader ; Muszbek, L. / Factor XIII deficiency. In: Seminars in Thrombosis and Hemostasis. 2009 ; Vol. 35, No. 4. pp. 426-438.
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