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https://hdl.handle.net/2440/17248
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Type: | Journal article |
Title: | The prevalence of inherited thrombophilias in a Caucasian Australian population |
Author: | Gibson, C. MacLennan, A. Rudzki, Z. Hague, W. Haan, E. Sharpe, P. Priest, K. Chan, A. Dekker, G. Khong, T. |
Citation: | Pathology, 2005; 37(2):160-163 |
Publisher: | Taylor & Francis |
Issue Date: | 2005 |
ISSN: | 0031-3025 1465-3931 |
Statement of Responsibility: | Gibson, Catherine S.; MacLennan, Alastair H.; Rudzki, Zbigniew; Hague, William M.; Haan, Eric A.; Sharpe, Phillipa; Priest, Kevin; Chan, Annabelle; Dekker, Gustaaf A.; Writing for the South Australian Cerebral Palsy Research Group; Goldwater, Paul N.; Khong, Yee T.; Morton, Mark R.; Ranieri, Enzo; Scott, Heather; Tapp, Heather; Casey, Graeme |
Abstract: | Aims: To describe the prevalence of four inherited thrombophilias and their combinations for the first time in a large Caucasian Australian population. Methods: Newborn screening cards of 883 Caucasian babies born in South Australia in 1986-1999 were de-identified and tested for the following inherited thrombophilic polymorphisms: factor V Leiden (G1691A), prothrombin gene mutation (G20210A), methylenetetrahydrofolate reductase gene (MTHFR) C677T and A1298C, as well as compound heterozygosity for the MTHFR polymorphisms. Results: The birth prevalences of heterozygosity and homozygosity for the four thrombophilic polymorphisms were: factor V Leiden 9.5% and 0.7%, prothrombin gene 4.1% and 0.2%, MTHFR C677T 37.3% and 12.4%, and MTHFR A1298C 38.3% and 11.8%, respectively. Compound heterozygosity for MTHFR C677T and A1298C was seen in 16.6% of the population. Overall, 64.2% and 24.5% of the population studied were homozygous and heterozygous, respectively, for at least one of the four polymorphisms studied. Conclusion: Inherited thrombophilic polymorphisms are common in the Caucasian Australian population. Knowledge of the background prevalence of these polymorphisms will allow further study of their associations in future disease research. |
Keywords: | Inherited thrombophilias factor V Leiden prothrombin MTHFR Caucasian prevalence Australian |
Description: | © 2008 Informa plc |
DOI: | 10.1080/00313020500058250 |
Published version: | http://www.informaworld.com/smpp/content?content=10.1080/00313020500058250 |
Appears in Collections: | Aurora harvest 2 Cerebral Palsy Research Group publications Obstetrics and Gynaecology publications |
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