Screening
Carrier and antenatal screening
In the UK, thalassaemia screening is offered to all pregnant women, and to their reproductive partner when screening shows the mother is a genetic carrier.[19] UK guidelines recommend considering preconception testing (or premarital testing, 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]
The American College of Obstetricians and Gynecologists recommends universal haemoglobinopathy testing for those planning pregnancy.[21][23] Haemoglobin electrophoresis or molecular genetic testing should be performed when planning pregnancy, or at the initial antenatal visit if there are no previous test results available.[21] If a woman is found to be a carrier, her reproductive partner should be offered screening.[23] Information and counselling should be offered alongside screening.[22][23]
Thorough genetic counselling should be offered to all individuals who test positive during screening.
Newborn screening
Early identification of newborns with beta-thalassaemia can help optimise management.
Beta-thalassaemia is not included in the US Recommended Uniform Screening Panel for state newborn screening programmes. However, current screening methodologies used to detect sickle cell disease (reported by all states) are capable of detecting a significantly diminished ratio of Hb A to fetal Hb (Hb F), which is suggestive of beta-thalassaemia.[26]
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