Abstract

INTRODUCTION
Advances in the knowledge of inherited thrombocytopenias (ITs) achieved since the beginning of this century have changed our view of these disorders, as it has become clear that reduced platelet count is not the only clinical issue of affected subjects1. In fact, patients with ITs can not only present with a number of other congenital defects, but  also have the predisposition to acquire additional severe haematologic diseases, such as leukaemia or bone marrow aplasia, or extra-haematologic disorders1. For example, patients with MYH9-related disease (MYH9-RD), the most frequent form of IT, are predisposed to develop kidney failure, deafness, juvenile cataracts, and alteration of liver enzymes1,2. [ ... ]

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Authors

Carlo Zaninetti - Department of Internal Medicine, IRCCS Policlinico "San Matteo" Foundation and University of Pavia, Pavia, Italy; Institute of Immunology and Transfusion Medicine, University Medicine Greifswald, Greifswald, Germany; PhD Course of Experimental Medicine, University of Pavia, Pavia, Italy

Clara Sacco - Thrombosis and Hemorrhagic Diseases Unit, Cardiovascular Department, "Humanitas" Clinical and Research Center IRCCS, Rozzano, Milan, Italy

Daoud Rahal - Department of Pathology, "Humanitas" Clinical and Research Center-IRCCS, Rozzano, Milano, Italy

Serena Barozzi - Department of Internal Medicine, IRCCS Policlinico "San Matteo" Foundation and University of Pavia, Pavia, Italy

Carlo L. Balduini - Department of Internal Medicine, IRCCS Policlinico "San Matteo" Foundation and University of Pavia, Pavia, Italy; "Ferrata-Storti" Foundation, Pavia, Italy

Corrado Lodigiani - Thrombosis and Hemorrhagic Diseases Unit, Cardiovascular Department, "Humanitas" Clinical and Research Center IRCCS, Rozzano, Milan, Italy

Alessandro Pecci - Department of Internal Medicine, IRCCS Policlinico "San Matteo" Foundation and University of Pavia, Pavia, Italy

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