Primary prevention

Prevention is focused on genetic screening and counselling.[34][35][36]​​​​​[37][38]​​​​​​​[39][40]​​ Approaches to screening vary worldwide.[41]

In the US, all patients who are considering pregnancy or are already pregnant are offered a complete blood count and screening for thalassemias.[42]​ If a woman is found to be a carrier, her reproductive partner should be offered screening.[43]​

Preventive measures recommended in the UK

UK guidelines recommend considering preconception testing (or premarital testing, if appropriate) for haemoglobinopathies in individuals of childbearing age who are considered high risk due to family origin.[44]

Thalassaemia screening is recommended for all women in the UK during early pregnancy (before 10 weeks’ gestation). Screening for alpha-thalassaemia aims to identify pregnancies in which both parents are alpha(0) thalassaemia carriers and the baby is at risk of alpha-thalassaemia major. If antenatal screening suggests that the mother is an alpha(0) thalassaemia carrier, testing is offered to the biological father if he is considered high risk (based on assessment of family origin). DNA testing is required to confirm alpha-thalassaemia status.[40]

Genetic counselling is recommended if both partners are identified as carriers of a gene for abnormal haemoglobins.[40][43]​​

Pre-implantation genetic testing to prevent a pregnancy with alpha-thalassaemia major is an option for prospective parents considering in vitro fertilisation.[37][45]

Secondary prevention

Prevention is focused on genetic counselling and antenatal testing.[34][35][36][37][38][45]​​

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