Article
Direct correction of haemoglobin E β-thalassaemia using base editors.
Nature communications - 19 Apr 2023
Badat Mohsin, Ejaz Ayesha, Hua Peng, Rice Siobhan, Zhang Weijiao, Hentges Lance D, Fisher Christopher A, Denny Nicholas, Schwessinger Ron, Yasara Nirmani, Roy Noemi B A, Issa Fadi, Roy Andi, Telfer Paul, Hughes Jim, Mettananda Sachith, Higgs Douglas R, Davies James O J
Abstract excerpt
Haemoglobin E (HbE) β-thalassaemia causes approximately 50% of all severe thalassaemia worldwide; equating to around 30,000 births per year. HbE β-thalassaemia is due to a point mutation in codon 26 of the human HBB gene on one allele (GAG; glutamatic acid → AAG; lysine, E26K), and any mutation causing severe β-thalassaemia on the other. When inherited together in compound heterozygosity these mutations can cause...
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