ArticleTransfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie2010
Current Strategies in Diagnosis of Inherited Storage Pool Defects.
Article in Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 51 citations in OpenAlex.
- Hair microscopy: an easy adjunct to diagnosis of systemic diseases in children.Applied microscopy · 2021Review
- Platelet storage pool disorder: multidisciplinary planning in pregnancy.BMJ case reports · 2021Article
- Thrombocytopathies: Not Just Aggregation Defects-The Clinical Relevance of Procoagulant Platelets.Journal of clinical medicine · 2021Review
- Zinc Homeostasis in Platelet-Related Diseases.International journal of molecular sciences · 2019Review
- Hermansky-Pudlak syndrome in pregnancy: A case report.Obstetric medicine · 2016Article
- Use of a microchip flow-chamber system as a screening test for platelet storage pool disease.International journal of hematology · 2015Article
- Article
- Clinical and Laboratory Diagnosis of Inherited Platelet Function Disorders.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2010Article
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited platelet defects lead to bleeding symptoms of varying severity. Typically, easy bruising, petechiae, epistaxis, and mucocutaneous bleeding are observed in affected patients. The platelet defects are classified into disorders affecting either platelet surface receptors or intracellular organelles of platelets. The latter are represented by platelet storage pool diseases (SPD) which share a defect of platelet granules. Platelet α-granules, δ-granules, or both may be affected resulting in the clinical picture of α-SPD (e.g. Gray platelet syndrome, Quebec platelet disorder, arthrogryposis, renal dysfunction, and cholestasis syndrome), δ-SPD (e.g. Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome), or αδ-SPD (e.g. X-linked thrombocytopenia, Wiskott-Aldrich syndrome). Diagnosis of SPD is very extensive and requires platelet aggregation and flow cytometry analyses with interpretation from a specialist. Many of these disorders share common treatments, however, efficacy can vary between different patients. Therapy regiments with tranexamic acid, DDAVP, activated FVIIa, and platelet transfusions have been published. Stem cell or bone marrow transplantations are preserved for severe defects. Here, we describe the pathophysiology, clinical manifestations, and diagnosis of the major human SPDs.
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Registered trials
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