Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Disorders of Hemostasis

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.

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

Tumor Progression

Tumor Progression

Tumor progression is a phenomenon where the pre-formed tumor acquires successive mutations to become clinically more aggressive and malignant. In the 1950s, Foulds first described the stepwise progression of cancer cells through successive stages.
Colon cancer is one of the best-documented examples of tumor progression. Early mutation in the APC gene in colon cells causes a small growth on the colon wall called a polyp. With time, this polyp grows into a benign, pre-cancerous tumor. Further...

Anticoagulant Drugs: Low-Molecular-Weight Heparins

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...

Overview of Hematopoiesis

Overview of Hematopoiesis

Hematopoiesis, or blood cell production, is a vital biological process that begins early in embryonic development and continues throughout life. This process generates the various types of cells found in blood, including red blood cells, white blood cells, and platelets from hematopoietic stem cells (HSCs).
Developmental Phases of Hematopoiesis
Initially, HSCs are formed in the embryonic yolk sac, a critical site for early blood cell production. These stem cells subsequently migrate to other...

Venous Thrombosis III: Interprofessional Care

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...

You might also read

Related Articles

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

Sort by

Same author

Patients with Lemierre syndrome have a high risk of new thromboembolic complications, clinical sequelae and death: an analysis of 712 cases.

Journal of internal medicine·2020

Same author

Laboratory monitoring of P2Y<sub>12</sub> inhibitors: communication from the SSC of the ISTH.

Journal of thrombosis and haemostasis : JTH·2018

Same author

Thrombopoietin receptor agonists in hereditary thrombocytopenias.

Journal of thrombosis and haemostasis : JTH·2018

Same author

Inherited thrombocytopenia caused by ANKRD26 mutations misdiagnosed and treated as myelodysplastic syndrome: report on two cases.

Journal of thrombosis and haemostasis : JTH·2017

Same author

Extramedullary hematopoiesis: a new feature of inherited thrombocytopenias?

Journal of thrombosis and haemostasis : JTH·2017

Same author

Bleeding is not the main clinical issue in many patients with inherited thrombocytopaenias.

Haemophilia : the official journal of the World Federation of Hemophilia·2017

Search research articles

Related Experiment Video

Updated: May 18, 2026

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets

Published on: November 29, 2024

Inherited thrombocytopenias: the evolving spectrum.

C L Balduini¹, A Pecci, P Noris

¹Department of Internal Medicine, University of Pavia – IRCCS Policlinico San Matteo Foundation, Pavia, Italy. c.balduini@smatteo.pv.it

Hamostaseologie

|September 14, 2012

Summary

Inherited thrombocytopenias are increasingly understood, yet many cases lack diagnosis. New treatments, like oral thrombopoietin mimetics for MYH9-related diseases, offer hope.

More Related Videos

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Published on: January 9, 2026

Ferric Chloride-induced Murine Thrombosis Models

Ferric Chloride-induced Murine Thrombosis Models

Published on: September 5, 2016

Related Experiment Videos

Last Updated: May 18, 2026

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets

Procoagulant Platelet Characterization by Measuring Phosphatidylserine Exposure and Microvesicle Release from Human Purified Platelets

Published on: November 29, 2024

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Thrombus Profiling Assay: A Microfluidics-Based Platform for Comprehensively Characterizing Biomechanical Thrombogenesis

Published on: January 9, 2026

Ferric Chloride-induced Murine Thrombosis Models

Ferric Chloride-induced Murine Thrombosis Models

Published on: September 5, 2016

Area of Science:

Hematology
Genetics
Molecular Biology

Background:

The field of inherited thrombocytopenias has seen significant expansion with new gene discoveries.
A substantial portion of patients with inherited thrombocytopenias still lack a definitive diagnosis.
Existing diagnostic algorithms require updates to incorporate recently identified disorders.

Purpose of the Study:

To review the general aspects of inherited thrombocytopenias.
To provide a detailed description of MYH9-related diseases and ANKRD26-related thrombocytopenia.
To highlight emerging therapeutic perspectives in managing inherited thrombocytopenias.

Main Methods:

Literature review of inherited thrombocytopenias.
Focus on genetic mutations and their clinical manifestations.
Discussion of current and novel therapeutic strategies.

Main Results:

MYH9-related diseases encompass previously distinct conditions.
ANKRD26-related thrombocytopenia is identified as a frequent inherited form.
Oral thrombopoietin mimetics show efficacy in increasing platelet counts for MYH9-related thrombocytopenia.

Conclusions:

Advances in understanding inherited thrombocytopenias are ongoing.
MYH9-related and ANKRD26-related thrombocytopenias are common forms requiring attention.
Novel therapies like thrombopoietin mimetics represent a significant advancement in patient care.