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Semin Thromb Hemost 2014; 40(07): 774-784
DOI: 10.1055/s-0034-1387922
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Inherited Macrothrombocytopenias

David John Rabbolini
1   Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia
2   Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, New South Wales, Australia
,
Marie Christine Morel-Kopp
1   Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia
2   Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, New South Wales, Australia
,
William Stevenson
1   Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia
2   Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, New South Wales, Australia
,
Christopher Morice Ward
1   Department of Haematology and Transfusion Medicine, Royal North Shore Hospital, Sydney, New South Wales, Australia
2   Northern Blood Research Centre, Kolling Institute of Medical Research, The University of Sydney, Sydney, New South Wales, Australia
› Author Affiliations
Further Information

Publication History

Publication Date:
31 August 2014 (online)

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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.

Keywords

inherited macrothrombo-cytopenia - next generation sequencing - whole exome sequencing - transcriptional factors - GFI1B
 

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