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Open AccessArticle

Diagnosis of Inherited Platelet Disorders on a Blood Smear

1
Institut für Immunologie und Transfusionsmedizin, Universitätsmedizin Greifswald, 17489 Greifswald, Germany
2
University of Pavia, and IRCCS Policlinico San Matteo Foundation, 27100 Pavia, Italy
3
PhD Program of Experimental Medicine, University of Pavia, 27100 Pavia, Italy
*
Author to whom correspondence should be addressed.
J. Clin. Med. 2020, 9(2), 539; https://doi.org/10.3390/jcm9020539
Received: 19 January 2020 / Revised: 8 February 2020 / Accepted: 12 February 2020 / Published: 17 February 2020
Inherited platelet disorders (IPDs) are rare diseases featured by low platelet count and 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 the 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 smears (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 a 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 the preparation of blood smears, it can be used to characterize thrombocytopenia in pediatric patients and even newborns further. 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. View Full-Text
Keywords: inherited platelet disorders; hereditary thrombocytopenias; blood smear; immunofluorescence; bleeding tendency inherited platelet disorders; hereditary thrombocytopenias; blood smear; immunofluorescence; bleeding tendency
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Zaninetti, C.; Greinacher, A. Diagnosis of Inherited Platelet Disorders on a Blood Smear. J. Clin. Med. 2020, 9, 539.

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