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Advances in the diagnosis of heritable platelet disorders

Gomez, K; (2022) Advances in the diagnosis of heritable platelet disorders. Blood Reviews , 56 , Article 100972. 10.1016/j.blre.2022.100972. Green open access

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Abstract

The last decade has seen large increases in the number of patients registered with heritable platelet disorders in national databases of bleeding disorders. Although individually rare, collectively they are a relatively common cause of heritable bleeding. This revolution has come about through the application of high-throughput sequencing strategies and efforts to standardize diagnostic testing. There is renewed interest in established parameters such as platelet volume and utilising simple tools such as blood smears. The diagnostic yield from peripheral blood smears can be improved with new microscopy techniques that could potentially assist in determining which patients need to be referred to tertiary centres for specialist testing. A better understanding of the other clinical features that can accompany abnormalities of platelet number or function, can lead to better clinical management and prevention of serious complications. There are challenges for clinicians who need to be aware of these developments, understand the limitations of new diagnostic techniques and keep abreast of strategies for incorporation into clinical practice. This review discusses some of these approaches, the limitations that clinicians need to be aware of and techniques that may enter clinical use in the future.

Type: Article
Title: Advances in the diagnosis of heritable platelet disorders
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.blre.2022.100972
Publisher version: https://doi.org/10.1016/j.blre.2022.100972
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions
Keywords: Genetic testing, Genomic analysis, Heritable platelet disorders, Heritable thrombocytopenia, Platelet function disorders, Humans, Blood Platelet Disorders, Blood Platelets, Hemorrhage, Blood Coagulation Disorders, High-Throughput Nucleotide Sequencing
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/10160901
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