Antenatal haemoglobinopathy screening in Australia

Yi Ling Tan and Giselle Kidson-Gerber
Med J Aust 2016; 204 (6): . || doi: 10.5694/mja15.01115
Published online: 4 April 2016


  • 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.

  • 1 St George Hospital, Sydney, NSW
  • 2 South Eastern Area Laboratory Services, Sydney, NSW

Competing interests:

No relevant disclosures.

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