Arvelige trombocytsygdomme

Translated title of the contribution: Inherited platelet disorders

Abstract

Inherited platelet disorders (IPD) cover a heterogenous group of disorders with large differences in severity, disease mechanisms and prevalence. Pathogenic variants in more than 60 different genes, associated with megakaryocyte or platelet number and/or function, are causal of IPD. Due to disease heterogeneity IPDs are often difficult to diagnose, problematic to manage and underestimated. In the past decade, genetic diagnostics using whole-genome sequencing has revolutionised the field by identifying numerous novel genes involved in IPD aetiology as described in this review.

Translated title of the contributionInherited platelet disorders
Original languageDanish
Article numberV02210176
JournalUgeskrift for Laeger
Volume183
Issue number42
ISSN0041-5782
Publication statusPublished - 18 Oct 2021

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