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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.
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in 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...
Antiplatelet Drugs: Prostaglandin Synthesis, P2Y12 and Glycoprotein IIb/IIIa Inhibitors01:20

Antiplatelet Drugs: Prostaglandin Synthesis, P2Y12 and Glycoprotein IIb/IIIa Inhibitors

Antiplatelet drugs emerge as frontline defenders against the insidious threat of thromboembolic diseases, where abnormal clots obstruct vital blood vessels. These drugs stand as bulwarks, inhibiting platelet aggregation and clot formation, thereby mitigating the risk of life-threatening conditions like myocardial infarction, coronary artery disease, and thrombotic strokes.
Prostaglandin synthesis inhibitors, exemplified by the widely known aspirin, wield their power by irreversibly acetylating...
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...
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...

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Related Experiment Video

Updated: Jun 23, 2026

Proplatelet Formation Dynamics of Mouse Fresh Bone Marrow Explants
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Proplatelet Formation Dynamics of Mouse Fresh Bone Marrow Explants

Published on: May 20, 2021

MYH9-related platelet disorders.

Karina Althaus1, Andreas Greinacher

  • 1Institut für Immunologie und Transfusionsmedizin, Ernst-Moritz-Arndt-Universität Greifswald, Sauerbruchstrasse, Greifswald, Germany.

Seminars in Thrombosis and Hemostasis
|May 2, 2009
PubMed
Summary

Myosin heavy chain 9 (MYH9)-related platelet disorders are inherited conditions causing low platelet counts and large platelets. Misdiagnosis is a risk, highlighting the need for accurate identification and management.

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Last Updated: Jun 23, 2026

Proplatelet Formation Dynamics of Mouse Fresh Bone Marrow Explants
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Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets
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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
  • Genetics
  • Molecular Biology

Background:

  • Myosin heavy chain 9 (MYH9)-related platelet disorders are inherited thrombocytopenias.
  • Mutations in the MYH9 gene affect the nonmuscle myosin heavy chain IIA (NMMHC-IIA) protein.
  • These mutations lead to macrothrombocytopenia and potential syndromic manifestations.

Purpose of the Study:

  • To review the history, clinical features, and diagnostic approaches for MYH9-related platelet disorders.
  • To summarize current knowledge on genetic mutations and their correlation with clinical phenotypes.
  • To discuss animal models and therapeutic strategies for MYH9 disorders.

Main Methods:

  • Literature review of MYH9-related disorders.
  • Summary of clinical and laboratory characteristics.
  • Analysis of mutation data and associated syndromic manifestations.

Main Results:

  • 31 MYH9 mutations causing macrothrombocytopenia identified.
  • Upstream mutations (approx. amino acid 1400) are more linked to syndromic features.
  • Macrothrombocytopenia is a consistent feature; renal failure, hearing loss, and cataracts occur in some.

Conclusions:

  • Accurate diagnosis of MYH9 disorders is crucial to avoid misdiagnosis as autoimmune thrombocytopenia.
  • Understanding genotype-phenotype correlations aids in predicting clinical outcomes.
  • Further research into animal models and therapeutic management is warranted.