Primary prevention

Beta-thalassaemia is an autosomal recessive genetic condition. Primary prevention involves screening those who intend to start a family to identify carriers, and genetic counselling (with a discussion of reproductive options).

In the UK, screening for thalassaemia is offered to all pregnant women, and to their reproductive partner when screening shows the mother is a genetic carrier.[19]​ Couples identified as carriers will be offered genetic counselling. UK guidelines recommend considering preconception screening (or premarital screening, if appropriate) for haemoglobinopathies in women from high-risk ethnic groups.[20]​ If the woman is found to be a carrier, her partner should be offered screening.[20]

I​n the US, all women who are considering pregnancy or are already pregnant should be offered screening for thalassaemia.[21][22][23]​​ If a woman is found to be a carrier, her reproductive partner should be offered screening.[22]​​​[23]​ Genetic counselling is recommended if both are identified as carriers of a gene for abnormal haemoglobins.[22][23]

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