Article
Version 1
This version is not peer-reviewed
Diagnosis of Inherited Platelet disorders on a Blood Smear
Version 1
: Received: 19 January 2020 / Approved: 20 January 2020 / Online: 20 January 2020 (09:50:59 CET)
A peer-reviewed article of this Preprint also exists.
Zaninetti, C.; Greinacher, A. Diagnosis of Inherited Platelet Disorders on a Blood Smear. J. Clin. Med. 2020, 9, 539. Zaninetti, C.; Greinacher, A. Diagnosis of Inherited Platelet Disorders on a Blood Smear. J. Clin. Med. 2020, 9, 539.
Abstract
Inherited platelet disorders (IPDs) are rare diseases featured by low platelet count and/or defective platelet function. Patients have variable bleeding diathesis and sometimes additional features that can be congenital or acquired. Identification of an IPD is desirable to avoid misdiagnosis of immune thrombocytopenia and use of improper treatments. Diagnostic tools include platelet function studies and genetic testing. The latter can be challenging as the correlation of its outcomes with phenotype is not easy. The immune-morphological evaluation of blood smear (by light- and immunofluorescence microscopy) represents a reliable method to phenotype subjects with suspected IPD. It is relatively cheap, not excessively time-consuming, and applicable to shipped samples. In some forms, it can provide diagnosis by itself, as for MYH9-RD, or in addition to other first-line tests as aggregometry or flow cytometry. In regard to genetic testing, it can guide specific sequencing. Since only minimal amounts of blood are needed for preparation of blood smears, it can be used to further characterize thrombocytopenia in pediatric patients and even newborns. In principle it is based on visualizing alterations in the distribution of proteins, which result from specific genetic mutations, by using monoclonal antibodies. It can be applied to identify deficiencies in membrane proteins, disturbed distribution of cytoskeletal proteins, and alpha as well as delta granules. On the other hand mutations associated with impaired signal transduction are difficult to identify by immunofluorescence of blood smears. This review summarizes technical aspects and the main diagnostic patterns achievable by this method.
Keywords
inherited platelet disorders; hereditary thrombocytopenias; blood smear; immunofluorescence; bleeding tendency
Subject
Medicine and Pharmacology, Hematology
Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Comments (0)
We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.
Leave a public commentSend a private comment to the author(s)
* All users must log in before leaving a comment
