Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Platelet function disorders.

Gurjeewan Garewal1, J Ahluwalia

  • 1Department of Hematology, Postgraduate Institution of Medical Education and Research, Chandigarh, India. haemat@eth.net

Indian Journal of Pediatrics
|January 15, 2004
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

An outbreak of meticillin-resistant Staphylococcus aureus colonization in a neonatal intensive care unit: use of a case-control study to investigate and control it and lessons learnt.

The Journal of hospital infection·2019
Same author

Hemophilia in the developing world: transforming lives through international collaboration.

Blood advances·2018
Same author

Adult onset hereditary hemochromatosis is associated with a novel recurrent Hemojuvelin (HJV) gene mutation in north Indians.

Blood cells, molecules & diseases·2018
Same author

Point-prevalence survey of carbapenemase-producing Enterobacteriaceae and vancomycin-resistant enterococci in adult inpatients in a university teaching hospital in the UK.

The Journal of hospital infection·2018
Same author

The Charlie Gard case: British and American approaches to court resolution of disputes over medical decisions.

Journal of perinatology : official journal of the California Perinatal Association·2017
Same author

Vortex-dislodged cells from bone marrow trephine biopsy yield satisfactory results for flow cytometric immunophenotyping.

International journal of laboratory hematology·2016
Same journal

Complex Glycerol Kinase Deficiency: A Case of Segmental Loss of Xp Chromosome - Author's Reply.

Indian journal of pediatrics·2026
Same journal

Successful Management of Roemheld Syndrome as an Unusual Cause of Motor Dysphagia in an Adolescent Girl.

Indian journal of pediatrics·2026
Same journal

Probable Dopamine-Induced Transient Vasomotor Rash in a Neonate Undergoing Therapeutic Hypothermia.

Indian journal of pediatrics·2026
Same journal

When the Eye Peels: An Unusual Harbinger of Kawasaki Disease - Author's Reply.

Indian journal of pediatrics·2026
Same journal

Family Perspectives on Unmet Needs and Shared Decision-Making in NICU Setting.

Indian journal of pediatrics·2026
Same journal

Beyond Proteinuria: Does Growth Matter in Childhood Nephrotic Syndrome?

Indian journal of pediatrics·2026
See all related articles

Inherited platelet function disorders cause rare bleeding issues, often mild mucocutaneous bleeds. Diagnosis involves specialized tests, with bone marrow transplant as the only cure.

Area of Science:

  • Hematology
  • Molecular Biology
  • Genetics

Background:

  • Platelet function disorders (PFDs) are rare causes of bleeding.
  • Inherited PFDs involve defects in platelet adhesion, aggregation, secretion, or procoagulant activities.
  • Clinical presentation is typically mild, with mucocutaneous bleeding, and may be diagnosed later in life.

Purpose of the Study:

  • To review the clinical presentation, diagnostic methods, and therapeutic options for inherited platelet function disorders.
  • To highlight recent advances in antenatal testing for these conditions.

Main Methods:

  • Coagulation screening including bleeding time.
  • Platelet aggregation tests with agonists.
  • Flow cytometry for platelet surface markers and glycoprotein analysis.

Related Experiment Videos

  • Genetic defect identification.

    • Main Results:

    • Mild phenotypes may go unrecognized in childhood.
    • Specialized laboratory tests are crucial for diagnosis.
    • Antenatal testing is now possible.
    • Bone marrow transplantation is the sole curative treatment.

    Conclusions:

    • Inherited platelet function disorders require comprehensive diagnostic evaluation.
    • Early recognition and diagnosis are important for management.
    • Bone marrow transplantation offers a curative solution for severe cases.