title: Inherited macrothrombocytopenias.
abstract: Inherited macrothrombocytopenias are a clinically heterogeneous group of disorders, many of which cause moderate-to-severe bleeding tendencies in affected individuals, but which remain under-recognized and are frequently misdiagnosed as immune thrombocytopenia purpura. Diagnostic strategies to date have included a predominant phenotypic approach. The emergence of genetic testing and the implementation of next generation sequencing strategies in the investigation and diagnosis of these disorders have broadened our understanding of their pathogenesis, classification, and presentation. This review describes the increasingly expanding group of recognized inherited macrothrombocytopenias and highlights their pathophysiology and the role of phenotypic and genetic testing in their description and diagnosis.
authors.affiliation: Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.
authors.forename: David John
authors.initials: DJ
authors.lastname: Rabbolini
authors.affiliation: Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.
authors.forename: Marie Christine
authors.initials: MC
authors.lastname: Morel-Kopp
authors.affiliation: Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.
authors.forename: William
authors.initials: W
authors.lastname: Stevenson
authors.affiliation: Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia.
authors.forename: Christopher Morice
authors.initials: CM
authors.lastname: Ward
mesh_terms: D003937:Diagnosis, Differential; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000503:physiopathology; D006801:Humans; D016553:Purpura, Thrombocytopenic, Idiopathic / Q000175:diagnosis* / Q000503:physiopathology; D013921:Thrombocytopenia / Q000175:diagnosis* / Q000503:physiopathology