Antenatal haemoglobinopathy screening in Australia

Summary

• Haemoglobinopathy screening should be performed in women with microcytic indices, women from high risk ethnic populations and those with unexplained anaemia.
• Early testing of women and their partners expedites appropriate management prior to and during pregnancy.
• Haemoglobinopathy screening is a multistep process beginning with a full blood count, ferritin assay, screening tests for haemoglobinopathies (ie, haemoglobin electrophoresis, high performance liquid chromatography, capillary electrophoresis) and assessment of clinical risk.
• Iron deficiency may obscure the diagnosis of β-thalassaemia trait. If possible, haemoglobinopathy testing should be performed when the woman is iron-replete.
• Genetic testing can be offered on the basis of the combined risk of the couple; but turnaround times are lengthy at present, hence the emphasis on early pregnancy or pre-conception screening.
• Screening processes vary between states and local health districts; a uniform approach to screening and genetic testing with a national registry to record results would improve management of this growing problem.