Related Experiment Video

Updated: May 9, 2026

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay
13:08

Measurement of Factor V Activity in Human Plasma Using a Microplate Coagulation Assay

Published on: September 9, 2012

Molecular basis and thrombotic manifestations of antithrombin deficiency in 15 unrelated Chinese patients

Qiulan Ding1, Min Wang, Guanqun Xu

  • 1Department of Laboratory Medicine, Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Thrombosis Research
|August 13, 2013
PubMed

Insights

Antithrombin (AT) deficiency significantly increases thrombosis risk. Genetic analysis identified new mutations, highlighting the need for prophylactic anticoagulation in affected individuals to prevent recurrent and multisite thrombotic events.

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Antithrombin (AT) deficiency is a known risk factor for thrombosis.
  • Understanding the genetic basis of AT deficiency is crucial for risk assessment.

Purpose of the Study:

  • To identify causative mutations in patients with Antithrombin deficiency.
  • To characterize the clinical presentation and thrombotic events associated with AT deficiency.
  • To evaluate the need for prophylactic anticoagulation in AT-deficient patients.

Main Methods:

  • Recruitment of 15 unrelated patients with Antithrombin deficiency.
  • Detailed clinical data collection, including thromboembolism history.
  • Mutation analysis of the AT gene (SERPINC1) via direct sequencing in patients and families.

Main Results:

  • Identified 15 heterozygous causative mutations, 5 novel (3 null, 2 missense).
  • 33.3% of patients had additional risk factors; one had a genetic alteration causing early-onset thrombosis.
  • 93.9% experienced multisite recurrent thrombotic episodes, predominantly deep vein thrombosis (93.3%) and mesenteric venous thrombosis (40.0%).
  • Venous and arterial thrombosis occurred in two patients.

Conclusions:

  • Prophylactic anticoagulation is recommended for AT-deficient patients to prevent recurrent and multisite thrombosis.
  • A strong association between primary mesenteric venous thrombosis and Antithrombin deficiency is noted.
Abstract

Keywords:
ACAATAT geneAT:AAT:AgAntithrombinCTDVTECGFPS:AFVIII:CFXaFgGene mutationHGVSHcyLAMIMVTPAI-1PC:APC:AgPEPLGPPPPROCPROSSERPINC1TEThromboembolismVTEactivated factor Xactivity of antithrombinactivity of factor VIIIactivity of protein Canti-β2 glycoprotein 1anti-β2GPIanticardiolipin antibodyantigen of antithrombinantigen of protein Cantithrombincomputed tomographydeep venous thrombosiselectrocardiogramfibrinogenfree protein S activityhomocysteinelupus anticoagulantmesenteric venous thrombosismyocardial infarctionplasminogenplasminogen activator inhibitor-1platelet poor plasmaprotein C geneprotein S genepulmonary embolismt-PAthe Human Genome Variation Societythromboembolismtissue plasminogen activatorvenous thromboembolism

More Related Videos

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well08:01

The Nijmegen Hemostasis Assay: Simultaneous Fluorogenic Measurement of Thrombin and Plasmin Generation in a Single Well

Published on: February 27, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis06:33

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis

Published on: June 9, 2018

Related Concept Videos

Anticoagulant Drugs: Low-Molecular-Weight Heparins01:30

Anticoagulant Drugs: Low-Molecular-Weight Heparins

Hemostasis is a crucial process that prevents excessive blood loss from damaged blood vessels. It involves various mechanisms such as vasoconstriction, platelet adhesion and activation, and fibrin formation. The importance of each mechanism depends on the type of vessel injury. In contrast, thrombosis is the abnormal formation of a blood clot within the blood vessels, leading to potential complications if the clot obstructs blood flow. Thrombosis can be caused by increased coagulability of the...
Disorders of Hemostasis01:24

Disorders of Hemostasis

Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Venous Thrombosis I: Introduction01:30

Venous Thrombosis I: Introduction

Venous thrombosis, the most common disorder of the veins, involves the formation of a thrombus or blood clot associated with vein inflammation. It can be classified as either superficial vein thrombosis or deep vein thrombosis.Superficial Vein Thrombosis: This involves the formation of a thrombus in a superficial vein, usually the greater or lesser saphenous vein. Though less severe than deep vein thrombosis (DVT), SVT can lead to complications if untreated.Deep Vein Thrombosis (DVT): This...
Venous Thrombosis III: Interprofessional Care01:29

Venous Thrombosis III: Interprofessional Care

Venous thrombosis requires effective prevention and treatment strategies to improve patient outcomes and reduce potential complications.Prevention StrategiesHealthcare providers must prioritize preventing venous thromboembolism (VTE) for all adult patients upon admission. Interventions depend on bleeding and thrombosis risk, medical history, current medications, diagnoses, planned procedures, and patient preferences. Patients on bed rest should change positions every two hours and, if not...
Anticoagulant Drugs: Vitamin K Antagonists and Direct Oral Anticoagulants01:18

Anticoagulant Drugs: Vitamin K Antagonists and Direct Oral Anticoagulants

Oral anticoagulants are vital tools in preventing and treating blood clotting disorders. This diverse class of medications can be categorized as vitamin K antagonists, exemplified by warfarin, and direct thrombin inhibitors (DTIs), such as dabigatran, as well as factor Xa inhibitors, including rivaroxaban.
Warfarin, a prominent vitamin K antagonist family member, exerts its effect by inhibiting the enzyme VKORC1 (vitamin K epoxide reductase complex 1). By hindering this enzyme, warfarin...
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies01:20

Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies

The key difference between Superficial Vein Thrombosis (SVT) and Deep Vein Thrombosis (DVT) lies in their location and severity.Clinical ManifestationsSVT typically presents with localized pain, tenderness, and redness along the course of a superficial vein, often accompanied by a palpable, cord-like structure under the skin. This condition is usually less dangerous than DVT but can be uncomfortable and may lead to complications such as cellulitis or, rarely, a clot extension into the deep...