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Treating thalassemia twice, in mice

Presented by
Dr Antonella Nai, San Raffaele Scientific Institute, Italy
EHA 2019
Dr Antonella Nai (San Raffaele Scientific Institute, Italy) and colleagues combined two experimental approaches to treat thalassemia in a mouse model [1]. They first used TMPRSS6 gene-specific antisense oligonucleotides (ASOs) to decrease excess iron. In addition, they deleted the TFR2 gene in the bone marrow using gene therapy.

The ASO treatment is effective in degrading this TMPRSS6 gene product, a key regulator in iron homeostasis, allowing iron levels to decrease to a healthy level. Dr Nai pointed out that loss-of-function mutations in the TMPRSS6 gene cause an inherited cause of iron-refractory iron-deficient anaemia. This increases erythropoietin sensitivity in the bone marrow cells and improves red blood cell production. This two-pronged approach significantly improved anaemia and increased red blood cell and haemoglobin concentrations in the mouse model. Dr Nai explained that the treatment holds promise for some patients but also comes at a high cost. In addition to the expenses associated with gene therapy, Dr Nai also claimed that data has shown more promise for younger patients than in older adults, being that living long-term with a genetic condition can bring about other complications. She concluded that gene therapy has great potential, and that a combination of gene and pharmaceutical therapy may be best fit for patients who do not respond to conventional management.

    1. Nai A, et al. Abstract S148, 24th Congress of the EHA, 13-16 June 2019, Amsterdam, the Netherlands.


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