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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...
Extrinsic and Intrinsic Pathways of Hemostasis01:20

Extrinsic and Intrinsic Pathways of Hemostasis

Blood clotting or coagulation involves extrinsic and intrinsic pathways, which ultimately merge into the common pathway, forming a fibrin clot.
The Extrinsic Pathway
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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.
Coagulation01:09

Coagulation

The coagulation phase is a critical part of the body's process to prevent blood loss following injury to blood vessels. It involves chemical reactions that form a clot to seal the injured area. The clotting process begins shortly after injury, within 15-20 seconds for severe damage and 1-2 minutes for minor injuries.
During the coagulation phase, clotting factors, or procoagulants, play a vital role in initiating and progressing the coagulation cascade. This cascade is a series of reactions...
Clot Retraction and Fibrinolysis01:16

Clot Retraction and Fibrinolysis

After a fibrin clot is formed, the next step is clot retraction, a vital process facilitated by platelet contractile proteins, such as actin and myosin. These proteins pull the fibrin strands closer together and condense the clot. This action reduces the size of the clot, creating a smaller, denser structure that effectively seals off the damaged vessel. Clot retraction consolidates the clot and helps with wound healing by bringing the edges of the damaged blood vessel closer together.
Mutations01:39

Mutations

Overview

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Helical Organization of Blood Coagulation Factor VIII on Lipid Nanotubes
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Identification of eight novel coagulation factor XIII subunit A mutations: implied consequences for structure and

Vytautas Ivaskevicius1, Arijit Biswas, Carville Bevans

  • 1Institute of Experimental Haematology and Transfusion Medicine, University Clinic Bonn, 53127 Bonn, Germany. vytautas.ivaskevicius@ukb.uni-bonn.de

Haematologica
|February 25, 2010
PubMed
Summary

Factor XIII deficiency, a rare bleeding disorder, is often caused by F13A gene mutations. This study identified new causative mutations and potential polymorphisms, highlighting the genetic basis of factor XIII deficiency.

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13:08

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Published on: September 9, 2012

Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Severe hereditary coagulation factor XIII deficiency is a rare homozygous bleeding disorder (1 in 2 million).
  • Heterozygous factor XIII deficiency is more common but typically not associated with severe bleeding.
  • Mutations in the F13A gene are the most common cause, with F13B gene mutations being rarer.

Purpose of the Study:

  • To analyze factor XIII activity and sequence F13A and F13B genes in patients with factor XIII deficiency.
  • To investigate the structural and functional impact of missense mutations on the factor XIII protein.

Main Methods:

  • Factor XIII activity was measured using a photometric assay.
  • F13A and F13B genes were sequenced in ten index patients and three relatives.
  • Structural analysis of wild-type protein was performed using a crystallographic model.

Main Results:

  • One homozygous individual had severe factor XIII deficiency (<5% activity).
  • Eight of 12 heterozygous patients (average 51% activity) showed bleeding tendencies.
  • Several missense and nonsense mutations in F13A were identified as causative.

Conclusions:

  • Identified missense (Pro289Arg, Arg611His, Asp668Gly) and nonsense (Gly390X, Trp664X) mutations cause factor XIII deficiency.
  • Gly592Ser, Tyr167Cys, and Arg540Gln variants are potential F13A gene polymorphisms.
  • Further in vitro studies are needed to confirm the mechanisms of identified factor XIII mutations.