The term ‘haemoglobinopathies’ covers a range of conditions with an autosomal recessive inheritance pattern that affect haemoglobin, including α-thalassaemia and β-thalassaemia, sickle cell disease and other abnormal haemoglobins, such as haemoglobin E (HbE).
Individuals with thalassaemia produce insufficient haemoglobin, while those with sickle cell disease produce structurally abnormal haemoglobin. The clinical implications range from mild through to death in utero.
Collectively, haemoglobinopathies are the most common single gene disorders in humans, and around 7% of the world’s population are carriers.1 Haemoglobinopathies are becoming more prevalent in Australia given immigration from endemic regions.2
While carriers are often asymptomatic, carrier status becomes clinically significant in women who are carriers and planning a pregnancy, where the biological male partner is also a carrier.1 Screening for haemoglobinopathies is not part of the newborn screening program in Australia.
Carrier screening should be discussed as part of pre-pregnancy and prenatal care in the following individuals:1–4
- Those with family history of anaemia or haemoglobinopathy.
- Those from the following ethnic backgrounds (have increased carrier frequency)
- southern European
- Middle Eastern
- Indian subcontinent
- central and south-east Asian
- Pacific Islander
- New Zealand Maori
- South American
- some northern Western Australian and Northern Territory Aboriginal and Torres Strait Islander communities.
- Those with a mean corpuscular volume (MCV) <80 fL or mean corpuscular haemoglobin (MCH) <27 pg.
- Biological male partners of known female carriers.