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Related Concept Videos

Structure and Function of Platelets01:18

Structure and Function of Platelets

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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...
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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.
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Transcription factor RUNX1 regulates coagulation factor XIII-A (<i>F13A1</i>): decreased platelet-megakaryocyte <i>F13A1</i> expression and clot contraction in <i>RUNX1</i> haplodeficiency.

Research and practice in thrombosis and haemostasis·2025
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Transcription Factor RUNX1 Regulates Coagulation Factor XIII-A ( <i>F13A1</i> ): Decreased Platelet-Megakaryocyte <i>F13A1</i> Expression and Clot Contraction in <i>RUNX1</i> Haplodeficiency.

medRxiv : the preprint server for health sciences·2025
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Phosphatidylserine-blocking nanoparticles inhibit thrombosis without increased bleeding in mice.

Journal of thrombosis and haemostasis : JTH·2024
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RUNX1 isoforms regulate RUNX1 and target genes differentially in platelets-megakaryocytes: association with clinical cardiovascular events.

Journal of thrombosis and haemostasis : JTH·2024
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RUNX1 Isoforms Regulate RUNX1 and Target-Genes Differentially in Platelets-Megakaryocytes: Association with Clinical Cardiovascular Events.

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Altered platelet-megakaryocyte endocytosis and trafficking of albumin and fibrinogen in RUNX1 haplodeficiency.

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Related Experiment Video

Updated: May 4, 2026

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

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Spotlight on FLI1, RUNX1, and platelet dysfunction.

A Koneti Rao1

  • 1TEMPLE UNIVERSITY SCHOOL OF MEDICINE.

Blood
|December 17, 2013
PubMed
Summary

Transcription factor mutations in FLI1 and RUNX1 cause inherited platelet dysfunction, leading to bleeding and impaired platelet secretion. Next-generation sequencing identified these genetic causes in patients with these symptoms.

Area of Science:

  • Hematology
  • Genetics
  • Molecular Biology

Background:

  • Inherited platelet dysfunction encompasses a range of disorders affecting platelet function.
  • Impaired platelet dense granule secretion is a known cause of bleeding disorders.

Purpose of the Study:

  • To investigate the genetic basis of inherited platelet dysfunction.
  • To identify specific gene mutations associated with excessive bleeding and impaired platelet secretion.

Main Methods:

  • Next-generation sequencing (NGS) was employed to analyze patient DNA.
  • Genetic analysis focused on identifying mutations in key transcription factors.

Main Results:

  • Mutations in FLI1 and RUNX1 were identified in 6 out of 13 patients.

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  • These patients presented with excessive bleeding and impaired platelet dense granule secretion.
  • The identified mutations were linked to transcription factor dysfunction.

    • Conclusions:

    • Transcription factor (TF) mutations, specifically in FLI1 and RUNX1, represent a significant mechanism for inherited platelet dysfunction.
    • NGS is a valuable tool for diagnosing rare bleeding disorders caused by genetic mutations.
    • Understanding these genetic underpinnings can inform future diagnostic and therapeutic strategies.