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Related Concept Videos

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.
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...
Structure and Function of Platelets01:18

Structure and Function of Platelets

The cell fragments known as platelets are disc-shaped, with an average diameter of about 3 μm and a thickness of roughly 1 μm. They play a crucial role in the body's vascular clotting system, which also involves plasma proteins, blood cells, and blood vessel tissues.
Platelets are continually replenished, circulating in the bloodstream for 9-12 days before being removed by phagocytes, primarily in the spleen. A microliter of circulating blood contains between 150,000 and 450,000 platelets, with...
Formation of the Platelet Plug01:22

Formation of the Platelet Plug

The platelet phase, the second stage of hemostasis, commences around 15-20 seconds after an injury. It follows and overlaps with the vascular phase, during which blood vessels constrict to minimize blood loss.
As the injured blood vessel contracts, endothelial cells undergo contraction, revealing collagen fibers in the basement membrane and underlying connective tissue. Furthermore, the plasma membrane of endothelial cells becomes adhesive, preparing the site for platelet adhesion. Platelets...
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
The extrinsic pathway of coagulation is typically initiated by tissue damage that exposes blood to tissue factor (TF), a protein released by the damaged tissue cells outside the blood vessels—this interaction with TF triggers biochemical reactions involving specific clotting factors. The key player here is Factor VII, which forms a...
Intracellular Signaling Affects Focal Adhesions01:17

Intracellular Signaling Affects Focal Adhesions

Integrins act both as extracellular input receivers and as intracellular processing activators. As their name suggests, integrins are entirely integrated into the membrane structure. Their hydrophobic membrane-spanning regions interact with the phospholipid bilayer's hydrophobic region. These membrane receptors provide extracellular attachment sites for effectors like hormones and growth factors. They activate intracellular response cascades when their effectors are bound and active.
Some...

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Related Experiment Video

Updated: May 9, 2026

A Uniform Shear Assay for Human Platelet and Cell Surface Receptors via Cone-plate Viscometry
04:32

A Uniform Shear Assay for Human Platelet and Cell Surface Receptors via Cone-plate Viscometry

Published on: June 5, 2019

GFI1B mutation causes a bleeding disorder with abnormal platelet function.

W S Stevenson1, M-C Morel-Kopp, Q Chen

  • 1Department of Haematology, Royal North Shore Hospital, Sydney, NSW, Australia; Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, NSW, Australia.

Journal of Thrombosis and Haemostasis : JTH
|August 10, 2013
PubMed
Summary
This summary is machine-generated.

A novel GFI1B gene mutation causes a rare bleeding disorder. This genetic defect impacts platelet production and function, leading to macrothrombocytopenia and abnormal bleeding tendencies.

Keywords:
GFI1B proteinblood platelet disordersgenetic linkagehumanthrombocytopeniatranscription factors

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Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation
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Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

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Last Updated: May 9, 2026

A Uniform Shear Assay for Human Platelet and Cell Surface Receptors via Cone-plate Viscometry
04:32

A Uniform Shear Assay for Human Platelet and Cell Surface Receptors via Cone-plate Viscometry

Published on: June 5, 2019

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation
04:37

Comprehensive Analysis of Procoagulant Platelets Exhibiting Features of Necrosis, Apoptosis and Platelet Activation

Published on: May 23, 2025

Area of Science:

  • Hematology
  • Human Genetics
  • Molecular Biology

Background:

  • Growth Factor Independence 1B (GFI1B) is a transcription factor crucial for red blood cell and platelet development.
  • Its role in human disease was previously unestablished.

Purpose of the Study:

  • To identify the genetic cause of a novel autosomal dominant bleeding disorder.
  • To elucidate the functional consequences of the identified genetic mutation.

Main Methods:

  • Family-based genetic linkage analysis and next-generation sequencing were employed to identify the causative mutation.
  • Functional studies in megakaryocytic cell lines assessed the impact of the mutant GFI1B transcript.

Main Results:

  • A novel frameshift mutation in the GFI1B gene was identified in a family with macrothrombocytopenia, red cell anisopoikilocytosis, and platelet dysfunction.
  • The mutation led to altered GFI1B transcriptional activity, reduced platelet alpha-granule content, and aberrant platelet protein expression.
  • Bleeding severity varied among affected individuals, ranging from spontaneous bleeding to surgical complications.

Conclusions:

  • GFI1B mutations cause a newly identified human bleeding disorder.
  • GFI1B is a critical regulator of platelet count, shape, and function.