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.
There were 59 instances of pregnancy with severe thalassaemia, all involving high risk couples.
The researchers say the study yielded other genetic findings. In 287 women there were 64 rare variants of the disease.
Researcher Dr Peng Zhiyu said: “High throughput screening offers a reliable way to detect thalassemia carriers. By strictly adhering to the protocol of pre-conceptional and early pregnancy thalassemia screening, the occurrence of severe thalassemia birth defects can be effectively prevented.
“Our findings highlight the importance of screening and follow-up for high-risk couples. This is especially crucial in areas with high or under-recognised prevalence of thalassemia, where such measures can significantly reduce the disease burden.”
Source:
Zhang J, Zhang W, Zhang H, Cai A, Li C, Liu L, Tan J, Yang Y, Yuan W, He J, Chen S, Cao Y, Zhang Y, Zhang J, Zhou R, Hou S, Huang D, Chen D, Peng Z, Lei D, Zhu B. (2025) “High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.” Journal of Genetics and Genomics, 5 May 2025, doi: 10.1016/j.jgg.2025.04.018.
Link: https://www.sciencedirect.com/science/article/pii/S1673852725001274
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