The study, published in the journal eLifeExternal link, could prove groundbreaking for the treatment of two hereditary forms of anaemia, according to a statement by the federal technology institute ETH Zurich published on Wednesday. These include beta-thalassemia and sickle cell anaemia, two of the most common inherited diseases worldwide.
These diseases are caused by a mutation of a gene called HBB. This gene is responsible for the production of beta-globin, an important component of the red blood pigment haemoglobin. The mutation causes beta-globins to be produced incorrectly. This results in a lack of functioning haemoglobin. Typically, this can cause red blood cells to die prematurely. Anaemia results. The organs and the entire body are then chronically undersupplied with oxygen.
Haemoglobin in adult humans usually consists of two alpha-globins and two beta-globins. To a lesser extent, there is also haemoglobin consisting of two alpha- and two delta-globins. The latter functions the same as beta-globin but is naturally produced in red blood cells in very small quantities.
Using CRISPR-Cas9 genome editing, the researchers have now boosted the production of these delta globins. To do so, they inserted additional DNA segments upstream of the HBB gene.
Mandy Boontanrart is the study leader and herself a carrier of a mutated gene, according to the institute’s statement. She hopes that such a therapy will be available by 2030. So far, however, the approach has only been tested in cell cultures. Next up are tests on animals to determine whether it is safe and effective in living organisms. Only then can a potential therapy be tested in human clinical trials.
Anaemia, the third-greatest cause of years of life lived with a disability, is estimated to affect one in four people worldwide, especially women and children.
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