In 1993, we described an English family with beta-thalassaemia that was not linked to the beta-globin locus. Whole genome sequence analyses revealed potential causative mutations in 15 different genes, of which 4 were consistently and uniquely associated with the phenotype in all 7 affected family members, also confirmed by genetic linkage analysis. Of the 4 genes, which are present in a centromeric region of chromosome 1, ASH1L was proposed as causative through functional mRNA knock-down and chromatin-immunoprecipitation studies in human erythroid progenitor cells. Our data suggest a putative role for ASH1L (Trithorax protein) in the regulation of globin genes.

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Keywords ASH1L, beta-thalassaemia, Trithorax protein
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Journal British Journal of Haematology
Breton, A. (Amandine), Theodorou, A. (Andria), Aktuna, S, Sonzogni, L. (Laura), Darling, D. (David), Chan, L. (Lucas), … Thein, S.L. (Swee Lay). (2016). ASH1L (a histone methyltransferase protein) is a novel candidate globin gene regulator revealed by genetic study of an English family with beta-thalassaemia unlinked to the beta-globin locus. British Journal of Haematology, 175(3), 525–530. doi:10.1111/bjh.14256