دورية أكاديمية
Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders.
| العنوان: | Validation of immunofluorescence analysis of blood smears in patients with inherited platelet disorders. |
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| المؤلفون: | Zaninetti C; Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany. Electronic address: https://twitter.com/ZaninettiCarlo., Leinøe E; Department of Haematology, Rigshospitalet University Hospital, Copenhagen, Denmark; Department of Genomic Medicine, Rigshospitalet University Hospital, Copenhagen, Denmark., Lozano ML; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia, Spain., Rossing M; Centre for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark., Bastida JM; Department of Hematology, Complejo Asistencial Universitario de Salamanca, Instituto de Investigación Biomédica de Salamanca, Universidad de Salamanca, Salamanca, Spain; Grupo Español de Alteraciones Plaquetarias Congénitas, Spanish Society of Thrombosis and Haemostasis, Madrid, Spain., Zetterberg E; Clinical Coagulation Research Unit, Department of Translational Medicine, Lund University, Malmö, Sweden., Rivera J; Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia, Spain; Grupo Español de Alteraciones Plaquetarias Congénitas, Spanish Society of Thrombosis and Haemostasis, Madrid, Spain., Greinacher A; Institut für Transfusionsmedizin, Universitätsmedizin Greifswald, Greifswald, Germany. Electronic address: andreas.greinacher@med.uni-greifswald.de. |
| المصدر: | Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2023 Apr; Vol. 21 (4), pp. 1010-1019. Date of Electronic Publication: 2023 Jan 10. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: England NLM ID: 101170508 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1538-7836 (Electronic) Linking ISSN: 15387836 NLM ISO Abbreviation: J Thromb Haemost Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : [New York] : Elsevier Original Publication: Oxford : Blackwell Pub. |
| مواضيع طبية MeSH: | Blood Platelet Disorders*/diagnosis , Blood Platelet Disorders*/genetics , Thrombocytopenia*/pathology, Humans ; Blood Platelets/pathology ; Platelet Function Tests ; Fluorescent Antibody Technique |
| مستخلص: | Background: Inherited platelet disorders (IPDs) are rare diseases characterized by reduced blood platelet counts and/or impaired platelet function. Recognizing IPDs is advisable but often challenging. The diagnostic tools include clinical evaluation, platelet function tests, and molecular analyses. Demonstration of a pathogenic genetic variant confirms IPDs. We established a method to assess the platelet phenotype on blood smears using immunofluorescence microscopy as a diagnostic tool for IPDs. Objectives: The aim of the present study was to validate immunofluorescence microscopy as a screening tool for IPDs in comparison with genetic screening. Methods: We performed a blinded comparison between the diagnosis made using immunofluorescence microscopy on blood smears and genetic findings in a cohort of 43 families affected with 20 different genetically confirmed IPDs. In total, 76% of the cases had inherited thrombocytopenia. Results: Immunofluorescence correctly predicted the underlying IPD in the vast majority of patients with 1 of 9 IPDs for which the typical morphologic pattern is known. Thirty of the 43 enrolled families (70%) were affected by 1 of these 9 IPDs. For the other 11 forms of IPD, we describe alterations of platelet structure in 9 disorders and normal findings in 2 disorders. Conclusion: Immunofluorescence microscopy on blood smears is an effective screening tool for 9 forms of IPD, which include the most frequent forms of inherited thrombocytopenia. Using this approach, typical changes in the phenotype may also be identified for other rare IPDs. Competing Interests: Declaration of competing interests There are no competing interests to disclose. (Copyright © 2023 International Society on Thrombosis and Haemostasis. Published by Elsevier Inc. All rights reserved.) |
| فهرسة مساهمة: | Keywords: blood platelet disorders; blood platelets; genetic testing; immunofluorescence; thrombocytopenia |
| تواريخ الأحداث: | Date Created: 20230202 Date Completed: 20230331 Latest Revision: 20230525 |
| رمز التحديث: | 20230525 |
| DOI: | 10.1016/j.jtha.2022.12.031 |
| PMID: | 36732160 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1538-7836 |
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| DOI: | 10.1016/j.jtha.2022.12.031 |