Gibson, C.MacLennan, A.Rudzki, Z.Hague, W.Haan, E.Sharpe, P.Priest, K.Chan, A.Dekker, G.Khong, T.2006-12-032006-12-032005Pathology, 2005; 37(2):160-1630031-30251465-3931http://hdl.handle.net/2440/17248© 2008 Informa plcAims: 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.enInherited thrombophiliasfactor V LeidenprothrombinMTHFRCaucasianprevalenceAustralianJournal article002005033510.1080/003130205000582500002287296000102-s2.0-1784440960755123Hague, W. [0000-0002-5355-2955]Haan, E. [0000-0002-7310-5124]Dekker, G. [0000-0002-7362-6683]Khong, T. [0000-0002-2404-007X]