title: Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders.
abstract: 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.
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Patrizia
authors.initials: P
authors.lastname: Noris
authors.affiliation: Institute of Molecular Genetics, National Research Council of Italy, Pavia, Italy;
authors.forename: Ginevra
authors.initials: G
authors.lastname: Biino
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Alessandro
authors.initials: A
authors.lastname: Pecci
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Elisa
authors.initials: E
authors.lastname: Civaschi
authors.affiliation: 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;
authors.forename: Anna
authors.initials: A
authors.lastname: Savoia
authors.affiliation: Genetica Medica, Dipartimento di Scienze Mediche Chirurgiche, Policlinico Sant'Orsola-Malpighi, University of Bologna, Bologna, Italy;
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Federica
authors.initials: F
authors.lastname: Melazzini
authors.affiliation: Department of Oncology, Azienda "Santobono-Pausilipon," Pausilipon Hospital, Naples, Italy;
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Loffredo
authors.affiliation: Division of Pediatric Hematology/Oncology, University of Catania, Catania, Italy;
authors.forename: Giovanna
authors.initials: G
authors.lastname: Russo
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Valeria
authors.initials: V
authors.lastname: Bozzi
authors.affiliation: Oncology-Haematology and Bone Marrow Transplantation Unit, Ospedale dei Bambini, Spedali Civili, Brescia, Italy;
authors.forename: Lucia Dora
authors.initials: LD
authors.lastname: Notarangelo
authors.affiliation: Department of Medicine, Section of Internal and Cardiovascular Medicine, University of Perugia, Perugia, Italy;
authors.forename: Paolo
authors.initials: P
authors.lastname: Gresele
authors.affiliation: Department of Hematology Research, Instituto de Investigaciones Médicas Alfredo Lanari, National Scientific and Technical Research Council, University of Buenos Aires, Buenos Aires, Argentina;
authors.forename: Paula G
authors.initials: PG
authors.lastname: Heller
authors.affiliation: Universitat Autònoma de Barcelona, Institut de Recerca Biomèdica Sant Pau, Barcelona, Spain;
authors.forename: Nuria
authors.initials: N
authors.lastname: Pujol-Moix
authors.affiliation: Department of Advanced Diagnosis, Clinical Research Center, National Hospital Organization Nagoya Medical Center, Nagoya, Japan;
authors.forename: Shinji
authors.initials: S
authors.lastname: Kunishima
authors.affiliation: Medicina III Ospedale San Paolo, Dipartimento di Scienza della Salute, Università degli Studi di Milano, Milan, Italy;
authors.forename: Marco
authors.initials: M
authors.lastname: Cattaneo
authors.affiliation: Weill Medical College of Cornell University, New York, NY;
authors.forename: James
authors.initials: J
authors.lastname: Bussel
authors.affiliation: Servizio Malattie Emorragiche e Trombotiche, Istituto di Medicina Interna e Geriatria, Policlinico Agostino Gemelli, Università Cattolica del Sacro Cuore, Rome, Italy;
authors.forename: Erica
authors.initials: E
authors.lastname: De Candia
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Claudia
authors.initials: C
authors.lastname: Cagioni
authors.affiliation: Hematology Unit, Pediatric Department, University of Torino, Torino, Italy; and.
authors.forename: Ugo
authors.initials: U
authors.lastname: Ramenghi
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Serena
authors.initials: S
authors.lastname: Barozzi
authors.affiliation: Department of Medicine; University of Padova Medical School, Padova, Italy.
authors.forename: Fabrizio
authors.initials: F
authors.lastname: Fabris
authors.affiliation: Department of Internal Medicine, University of Pavia-Istituto Di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo Foundation, Pavia, Italy;
authors.forename: Carlo L
authors.initials: CL
authors.lastname: Balduini
mesh_terms: D000293:Adolescent; D000328:Adult; D001792:Blood Platelets / Q000473:pathology*; D016022:Case-Control Studies; D048429:Cell Size; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000097:blood / Q000145:classification / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D008875:Middle Aged; D020409:Molecular Motor Proteins / Q000235:genetics; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000097:blood / Q000175:diagnosis; D013921:Thrombocytopenia / Q000097:blood* / Q000145:classification / Q000151:congenital / Q000235:genetics*; D055815:Young Adult
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains