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Antenatal haemoglobinopathy screening in Australia

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Haemoglobinopathies are inherited conditions caused by defects in globin chain synthesis. Worldwide, haemoglobinopathies are the most common genetic defect in humans — about 7% of the world’s population are carriers.1 In Australia, haemoglobinopathies are becoming more prevalent because of recent immigration of people from countries where these disorders are endemic.

Haemoglobinopathy disorders include α– and β-thalassaemia, sickle-cell disease and globin chain variants. Screening is complex and has limitations due to lack of evidence; ambiguities in the results of screening tests; health practitioners assessing patients’ risks with incomplete education in this evolving area; poor correlation between the genotype and phenotype in affected people leading to difficulty in predicting outcomes in an unborn child; definitive testing being expensive and not covered by Medicare; and generally lower health literacy in the target population.

Screening is predominantly initiated by general practitioners, obstetricians and midwives. Subsequently, haematologists, geneticists and laboratory scientists may become involved. In Australia, there is no national screening program and wide variation in testing practices. Many pregnant women are not being screened in a timely manner.2

In this article, we aim to provide…