Please use this identifier to cite or link to this item: http://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
RMID: 0020050335
DOI: 10.1080/00313020500058250
Published version: http://www.informaworld.com/smpp/content?content=10.1080/00313020500058250
Appears in Collections:Obstetrics and Gynaecology publications
Cerebral Palsy Research Group publications

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