Antithrombin deficiency and its laboratory diagnosis

Research output: Contribution to journalReview article

30 Citations (Scopus)

Abstract

Antithrombin (AT) belongs to the serpin family and is a key regulator of the coagulation system. AT inhibits active clotting factors, particularly thrombin and factor Xa; its absence is incompatible with life. This review gives an overview of the protein and gene structure of AT, and attempts to explain how glucosaminoglycans, such as heparin and heparan sulfate accelerate the inhibitory reaction that is accompanied by drastic conformational change. Hypotheses on the regulation of blood coagulation by AT in physiological conditions are discussed. Epidemiology of inherited thrombophilia caused by AT deficiency and its molecular genetic background with genotype-phenotype correlations are summarized. The importance of the classification of AT deficiencies and the phenotypic differences of various subtypes are emphasized. The causes of acquired AT deficiency are also included in the review. Particular attention is devoted to the laboratory diagnosis of AT deficiency. The assay principles of functional first line laboratory tests and tests required for classification are discussed critically, and test results expected in various AT deficiency subtypes are summarized. The reader is provided with a clinically oriented algorithm for the correct diagnosis and classification of AT deficiency, which could be useful in the practice of routine diagnosis of thrombophilia. Clin Chem Lab Med 2010;48:S67-78.

Original languageEnglish
Pages (from-to)S67-S78
JournalClinical Chemistry and Laboratory Medicine
Volume48
Issue numberSUPPL. 1
DOIs
Publication statusPublished - Dec 1 2010

Keywords

  • Amydolytic assay
  • antithrombin
  • antithrombin deficiency
  • thrombophilia

ASJC Scopus subject areas

  • Clinical Biochemistry
  • Biochemistry, medical

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