Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Antithrombin and its deficiency states.

D A Lane1, R R Olds, S L Thein

  • 1Department of Haematology, Charing Cross and Westminster Medical School, Hammersmith, London.

Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis
|June 1, 1992
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Stop and Go: Barriers and Facilitators to Care Home Research.

The Journal of frailty & aging·2023
Same author

The haematology of Jamaicans: red cell indices in HbAA, HbAS, HbAC, and HbA-HPFH genotypes.

Journal of community genetics·2022
Same author

Enhanced activity of an ADAMTS-13 variant (R568K/F592Y/R660K/Y661F/Y665F) against platelet agglutination in vitro and in a murine model of acute ischemic stroke.

Journal of thrombosis and haemostasis : JTH·2018
Same author

ADAMTS-13 and von Willebrand factor: a dynamic duo.

Journal of thrombosis and haemostasis : JTH·2017
Same author

Comparison of bleeding risk scores in patients with atrial fibrillation: insights from the RE-LY trial.

Journal of internal medicine·2017
Same author

Next-generation sequencing as a tool for breakpoint analysis in rearrangements of the globin gene clusters.

International journal of laboratory hematology·2017
Same journal

Pampiniform venous plexus thrombosis in a 37 years-old male patient with severe thrombocytosis: a multifactorial aetiology.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
Same journal

PROS1 Cys475Tyr mutation associated with a type III protein S deficiency pattern.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
Same journal

Dynamic microclot profiling: thromboelastography advances precision management in long COVID and myalgic encephalomyelitis/chronic fatigue syndrome.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
Same journal

Genetic characterization of Glanzmann thrombasthenia: insights from novel igta2b mutations in a Tunisian patient cohort.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
Same journal

Uterine fibroids as an underrecognized risk factor for venous thromboembolism: a narrative review.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
Same journal

SEER sonorheometry enhances fibrinolysis detection during liver transplantation with heparin.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis·2026
See all related articles

Antithrombin deficiency, a genetic or acquired condition, increases the risk of blood clots. Research identified over 40 novel mutations affecting antithrombin's heparin binding and reactive sites, impacting its function.

Area of Science:

  • Biochemistry
  • Genetics
  • Hematology

Background:

  • Antithrombin is a key proteinase inhibitor regulating blood coagulation.
  • Deficiency in antithrombin increases the risk of thromboembolism.
  • Inherited and acquired antithrombin deficiency present diagnostic challenges.

Purpose of the Study:

  • To investigate the molecular basis of inherited antithrombin deficiency.
  • To characterize novel mutations affecting antithrombin function.
  • To understand the structure-function relationship of antithrombin.

Main Methods:

  • Gene sequencing and protein analysis of over 100 cases.
  • Identification and characterization of novel mutations.
  • Analysis of mutations affecting heparin binding and reactive sites.

Related Experiment Videos

Main Results:

  • Over 40 novel mutations in the antithrombin gene were identified.
  • Mutations were found to affect the heparin binding domain (residues 7-129) and the reactive center.
  • Specific mutations were linked to impaired proteinase inhibition and altered conformational stability.

Conclusions:

  • Genetic analysis has elucidated the molecular basis of numerous antithrombin deficiencies.
  • Mutations can impair antithrombin's critical functions, leading to thrombotic risk.
  • Further research is needed to understand the prevalence and clinical impact of these mutations.