Genetic and hemostatic characterization of PAI-1 deficiency and isolated hyperfibrinolysis: data from the RBiN study.

doi:10.1016/j.rpth.2026.106928

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Article

Genetic and hemostatic characterization of PAI-1 deficiency and isolated hyperfibrinolysis: data from the RBiN study.

Research and practice in thrombosis and haemostasis - 1 Aug 2026

Haisma Bauke, Nieuwenstein Thomas, Rijpma Sanna R, Simons Annet, Blijlevens Nicole M A, van Heerde Waander L, Schols Saskia E M

Abstract excerpt

Background: Plasminogen activator inhibitor 1 (PAI-1) is a key regulator of fibrinolysis, and its deficiency causes bleeding symptoms. PAI-1 deficiency is rare, and pathogenic SERPINE1 variants are only sporadically reported. Objectives: To assess SERPINE1 variant occurrence and plasmin generation in patients with PAI-1 deficiency compared to patients with isolated hyperfibrinolysis or rare coagulation factor...

Read the complete abstract on PubMed

Topics

Humans
Plasminogen Activator Inhibitor 1
Female
Fibrinolysis
Male
Cross-Sectional Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Adult

Hemostasis

Promoter Regions, Genetic

Fibrinolysin

Middle Aged

Child

Adolescent

Coagulation Protein Disorders

Polymorphism, Genetic

Genetic Predisposition to Disease

Hemorrhagic Disorders

Source

Open in PubMed Open full text

Identifiers

PMID: 42780071
DOI: 10.1016/j.rpth.2026.106928
PMCID: PMC13597289

Genes

SERPINE1

Variants

rs6092

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 18 Oct 2026.

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