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Blood. 2014 Aug 7;124(6):e4-e10. doi: 10.1182/blood-2014-03-564328. Epub 2014 Jul 2.

Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.

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Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy;
Department of Medical Sciences, University of Trieste, Trieste, Italy; Institute for Maternal and Child Health-Istituto Di Ricovero e Cura a Carattere Scientifico Burlo Garofolo, Trieste, Italy;
Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;
Department of Oncology, Azienda "Santobono-Pausilipon," Pausilipon Hospital, Naples, Italy;
Division of Pediatric Hematology/Oncology, University of Catania, Catania, Italy;
Oncology-Haematology and Bone Marrow Transplantation Unit, Ospedale dei Bambini, Spedali Civili, Brescia, Italy;
Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;
Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, National Scientific and Technical Research Council, University of Buenos Aires, Buenos Aires, Argentina;
Universitat Autònoma de Barcelona, Institut de Recerca Biomèdica Sant Pau, Barcelona, Spain;
Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;
Medicina III Ospedale San Paolo, Dipartimento di Scienza della Salute, Università degli Studi di Milano, Milan, Italy;
Weill Medical College of Cornell University, New York, NY;
Servizio Malattie Emorragiche e Trombotiche, Istituto di Medicina Interna e Geriatria, Policlinico Agostino Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy;
Hematology Unit, Pediatric Department, University of Torino, Torino, Italy; and.
Department of Medicine; University of Padova Medical School, Padova, Italy.


Abnormalities of platelet size are one of the distinguishing features of inherited thrombocytopenias (ITs), and evaluation of blood films is recommended as an essential step for differential diagnosis of these disorders. Nevertheless, what we presently know about this subject is derived mainly from anecdotal evidence. To improve knowledge in this field, we evaluated platelet size on blood films obtained from 376 patients with all 19 forms of IT identified so far and found that these conditions differ not only in mean platelet diameter, but also in platelet diameter distribution width and the percentage of platelets with increased or reduced diameters. On the basis of these findings, we propose a new classification of ITs according to platelet size. It distinguishes forms with giant platelets, with large platelets, with normal or slightly increased platelet size, and with normal or slightly decreased platelet size. We also measured platelet diameters in 87 patients with immune thrombocytopenia and identified cutoff values for mean platelet diameter and the percentage of platelets with increased or reduced size that have good diagnostic accuracy in differentiating ITs with giant platelets and with normal or slightly decreased platelet size from immune thrombocytopenia and all other forms of IT.

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