The prevalence of inherited thrombophilias in a Caucasian Australian population

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dc.contributor.authorGibson, C.
dc.contributor.authorMacLennan, A.
dc.contributor.authorRudzki, Z.
dc.contributor.authorHague, W.
dc.contributor.authorHaan, E.
dc.contributor.authorSharpe, P.
dc.contributor.authorPriest, K.
dc.contributor.authorChan, A.
dc.contributor.authorDekker, G.
dc.contributor.authorKhong, T.
dc.date.issued2005
dc.description© 2008 Informa plc
dc.description.abstractAims: 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.statementofresponsibilityGibson, 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.identifier.citationPathology, 2005; 37(2):160-163
dc.identifier.doi10.1080/00313020500058250
dc.identifier.issn0031-3025
dc.identifier.issn1465-3931
dc.identifier.orcidHague, W. [0000-0002-5355-2955]
dc.identifier.orcidHaan, E. [0000-0002-7310-5124]
dc.identifier.orcidDekker, G. [0000-0002-7362-6683]
dc.identifier.orcidKhong, T. [0000-0002-2404-007X]
dc.identifier.urihttp://hdl.handle.net/2440/17248
dc.language.isoen
dc.publisherTaylor & Francis
dc.source.urihttp://www.informaworld.com/smpp/content?content=10.1080/00313020500058250
dc.subjectInherited thrombophilias
dc.subjectfactor V Leiden
dc.subjectprothrombin
dc.subjectMTHFR
dc.subjectCaucasian
dc.subjectprevalence
dc.subjectAustralian
dc.titleThe prevalence of inherited thrombophilias in a Caucasian Australian population
dc.typeJournal article
pubs.publication-statusPublished

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