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Article

Bridging laboratory assays, genetics, and clinical phenotypes in antithrombin deficiency: Rethinking the diagnostic paradigm.

Thrombosis research - 1 May 2026

Rojnik Tamara, Šket Robert, Slapnik Barbara, Vrhovšek Blaž, Mavri Alenka, Debeljak Maruša, Božič Mijovski Mojca

Abstract excerpt

BACKGROUND: Diagnosis of antithrombin deficiency (ATD), the most severe inherited thrombophilia, commonly relies on functional assays despite their uncertain sensitivity. Moreover, routine characterization of ATD remains uncommon due to limited supporting clinical data. OBJECTIVES: This study aimed to evaluate the diagnostic sensitivity of commercial antithrombin (AT) activity assays and assess clinical...

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Identifiers

PMID: 42019391
DOI: 10.1016/j.thromres.2026.109689

Genes

SERPINC1

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