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https://hdl.handle.net/2440/17248
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dc.contributor.author | Gibson, C. | - |
dc.contributor.author | MacLennan, A. | - |
dc.contributor.author | Rudzki, Z. | - |
dc.contributor.author | Hague, W. | - |
dc.contributor.author | Haan, E. | - |
dc.contributor.author | Sharpe, P. | - |
dc.contributor.author | Priest, K. | - |
dc.contributor.author | Chan, A. | - |
dc.contributor.author | Dekker, G. | - |
dc.contributor.author | Khong, T. | - |
dc.date.issued | 2005 | - |
dc.identifier.citation | Pathology, 2005; 37(2):160-163 | - |
dc.identifier.issn | 0031-3025 | - |
dc.identifier.issn | 1465-3931 | - |
dc.identifier.uri | http://hdl.handle.net/2440/17248 | - |
dc.description | © 2008 Informa plc | - |
dc.description.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. | - |
dc.description.statementofresponsibility | 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 | - |
dc.language.iso | en | - |
dc.publisher | Taylor & Francis | - |
dc.source.uri | http://www.informaworld.com/smpp/content?content=10.1080/00313020500058250 | - |
dc.subject | Inherited thrombophilias | - |
dc.subject | factor V Leiden | - |
dc.subject | prothrombin | - |
dc.subject | MTHFR | - |
dc.subject | Caucasian | - |
dc.subject | prevalence | - |
dc.subject | Australian | - |
dc.title | The prevalence of inherited thrombophilias in a Caucasian Australian population | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1080/00313020500058250 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Hague, W. [0000-0002-5355-2955] | - |
dc.identifier.orcid | Haan, E. [0000-0002-7310-5124] | - |
dc.identifier.orcid | Dekker, G. [0000-0002-7362-6683] | - |
dc.identifier.orcid | Khong, T. [0000-0002-2404-007X] | - |
Appears in Collections: | Aurora harvest 2 Cerebral Palsy Research Group publications Obstetrics and Gynaecology publications |
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