alexa How should we test for nonsevere heritable platelet function disorders?
Clinical Research

Clinical Research

Journal of Clinical Case Reports

Author(s): Norman JE, Westbury SK, Jones ML, Mumford AD

Abstract Share this page

Abstract Heritable platelet function disorders (HPFD) are a heterogeneous group of bleeding disorders with diverse clinical and laboratory characteristics. In contrast to the severe phenotype disorders, Glanzmann thrombasthenia and Bernard-Soulier syndrome, most nonsevere HPFD are incompletely characterized. This is a consequence of the poor standardization of diagnostic tests and of the lack of consensus about diagnostic criteria for the different subgroups of nonsevere HPFD. Distinguishing patients who have a nonsevere HPFD from those who do not is an essential first step in diagnosis which may be aided by bleeding assessment tools and screening tests such as the Platelet Function Analyser-100. However, high diagnostic accuracy can only be achieved with both light transmission aggregation (LTA) and secretion tests, for which streamlined agonist panels may be of similar utility to extended panels. Standardization of the methodology of these tests and quality assurance are essential for robust diagnosis. Identification of which platelet pathway is defective in patients with nonsevere HPFD is also usually possible with LTA and secretion tests. This strategy also sometimes enables exact diagnosis by implicating a single candidate protein and gene. Next-generation sequencing may offer a rapid approach to diagnosis of nonsevere HPFD, although rigorous strategies must be adopted to distinguish causative gene defects from bystander variations. © 2014 John Wiley & Sons Ltd. This article was published in Int J Lab Hematol and referenced in Journal of Clinical Case Reports

Relevant Expert PPTs

Relevant Speaker PPTs

Recommended Conferences

  • Global Experts meeting on Oncology Case Reports
    Aug 29-31, 2017 London, UK
  • Global Experts Meeting on Case Reports
    Osaka, Japan October 09-11, 2017
  • 6th Global Experts Meeting on Medical Case Reports
    October 16-18, 2017 San Francisco, California, USA

Relevant Topics

Peer Reviewed Journals
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version