Literature DB >> 31030814

Inherited Platelet Disorders: A Modern Approach to Evaluation and Treatment.

Michele P Lambert1.   

Abstract

The inherited platelet disorders are a heterogeneous group of disorders that can be pleotropic in their clinical presentations. They may present with variable platelet counts and bleeding, making their diagnosis difficult. New diagnostic tools range from flow cytometric platelet function assessments to next-generation sequencing. Several platelet disorders may now be treated with gene therapy or bone marrow transplant. Improved understanding of the molecular and biologic mechanisms of the inherited platelet disorders may lead to novel targeted therapies.
Copyright © 2019 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Familial platelet disorders; Inherited platelet disorders; Inherited thrombocytopenia; Macrothrombocytopenia; Platelet function disorders; Storage pool deficiency

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Year:  2019        PMID: 31030814     DOI: 10.1016/j.hoc.2019.01.008

Source DB:  PubMed          Journal:  Hematol Oncol Clin North Am        ISSN: 0889-8588            Impact factor:   3.722


  2 in total

1.  Clinical management, ethics and informed consent related to multi-gene panel-based high throughput sequencing testing for platelet disorders: Communication from the SSC of the ISTH.

Authors:  Kate Downes; Pascal Borry; Katrin Ericson; Keith Gomez; Andreas Greinacher; Michele Lambert; Eva Leinoe; Patrizia Noris; Chris Van Geet; Kathleen Freson
Journal:  J Thromb Haemost       Date:  2020-10       Impact factor: 5.824

Review 2.  Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Authors:  Paquita Nurden; Simon Stritt; Remi Favier; Alan T Nurden
Journal:  Haematologica       Date:  2021-02-01       Impact factor: 9.941

  2 in total

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