Ali, S., Shetty, S., Ghosh, K. et al. (5 more authors) (2016) Congenital macrothrombocytopenia is a heterogeneous disorder in India. Haemophilia, 22 (4). pp. 570-582. ISSN 1351-8216
Abstract
Introduction: Inherited macrothrombocytopenia represents a heterogeneous group of disorders which are characterised by the presence of a reduced number of abnormally large platelets in the circulation, which may or may not be associated with a bleeding tendency. In spite of several causative genes having been identified, the underlying genetic defects remain to be identified in approximately half of the cases. Aims: To understand the molecular pathology of isolated giant platelet disorder from India. Materials and Methods: We studied 112 cases who were referred for investigation of macrothrombocytopenia. Agonist induced platelet aggregation and platelet GP1b/IX/V receptor expression were investigated to assess GP1b/IX/V receptor expression and the GP1BA, GP1BB, GP9, ABCG5, ABCG8, TUBB1 and MYH9 genes were analysed to identify candidate gene defects. Results: Twenty three candidate gene defects were identified in 48 of 112 cases, 20 of which were novel. Of the candidate defects identified, 91% were missense and 9% were nonsense variations. The missense variations were in GP9 (9), ABCG5 (4), GP1BB (3), GP1BA (3), and MYH9 (2), while the nonsense defects occurred in MYH9 (1) and GP1BA (1). Conclusions: This study increases the understanding of the molecular basis of an isolated giant platelet disorder, a common heterogeneous condition prevalent in North and Eastern India.
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | © 2016 Wiley. This is an author produced version of a paper subsequently published in Haemophilia. Uploaded in accordance with the publisher's self-archiving policy. |
Keywords: | Thrombocytopenia; macrothrombocytopenia; giant platelet disorder; GP1b/IX/V complex; MYH9 |
Dates: |
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Institution: | The University of Sheffield |
Academic Units: | The University of Sheffield > Faculty of Medicine, Dentistry and Health (Sheffield) > Department of Infection, Immunity and Cardiovascular Disease The University of Sheffield > Sheffield Teaching Hospitals |
Depositing User: | Symplectic Sheffield |
Date Deposited: | 04 Jul 2016 10:37 |
Last Modified: | 25 Jul 2017 15:36 |
Published Version: | https://dx.doi.org/10.1111/hae.12917 |
Status: | Published |
Publisher: | Wiley |
Refereed: | Yes |
Identification Number: | 10.1111/hae.12917 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:101702 |