The prevalence of inherited thrombophilias in a Caucasian Australian population.
OBJECTIVE
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.


CONCLUSIONS
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.
Gibson
Catherine S
CS
Department of Obstetrics and Gynaecology, The University of Adelaide, South Australia, Australia. gibsonc@mail.wch.sa.gov.au
MacLennan
Alastair H
AH
Rudzki
Zbigniew
Z
Hague
William M
WM
Haan
Eric A
EA
Sharpe
Phillipa
P
Priest
Kevin
K
Chan
Annabelle
A
Dekker
Gustaaf A
GA
D025861:Blood Coagulation Disorders, Inherited / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D011110:Polymorphism, Genetic; D015995:Prevalence; D013021:South Australia / Q000453:epidemiology; D019851:Thrombophilia / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics; D044465:White People / Q000235:genetics*