The latest genetic testing technology can be used for pre-conception screening to identify risk of severe thalassaemia, according to Chinese researchers.
A study in Chenzhou, China, used High-Throughput Sequencing for a trial screening programme involving more than 28,000 women of childbearing age.
The aim was to identify risk before pregnancy or in its early stages. Reporting in the Journal of Genetics and Genomics, the researchers say there were 25,000 live births and just two of these were children with severe thalassaemia – but these were born to couples who didn’t complete screening.
The study found that 15% of women were carriers of thalassaemia. Based on testing of spouses, 0.75% were found to be at high risk.
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