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Hamostaseologie 2023; 43(01): 052-059
DOI: 10.1055/a-1987-3310
Review Article

Inherited Platelet Disorders: A Short Introduction

Barbara Zieger
1   Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany
,
Doris Boeckelmann
1   Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, University of Freiburg, Freiburg, Germany
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Abstract

Platelets play an important role regarding coagulation by contributing to thrombus formation by platelet adhesion, aggregation, and α-/δ-granule secretion. Inherited platelet disorders (IPDs) are a very heterogeneous group of disorders that are phenotypically and biochemically diverse. Platelet dysfunction (thrombocytopathy) can be accompanied by a reduction in the number of thrombocytes (thrombocytopenia). The extent of the bleeding tendency can vary greatly. Symptoms comprise mucocutaneous bleeding (petechiae, gastrointestinal bleeding and/or menorrhagia, epistaxis) and increased hematoma tendency. Life-threatening bleeding can occur after trauma or surgery. In the last years, next-generation sequencing had a great impact on unrevealing the underlying genetic cause of individual IPDs. Because IPDs are so diverse, a comprehensive analysis of platelet function and genetic testing is indispensable.

Keywords

inherited platelet disorders - next-generation sequencing - Hermansky-Pudlak syndrome - GNE


Publication History

Received: 31 October 2022

Accepted: 23 November 2022

Article published online:
20 February 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
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