Delta‐globin gene expression improves sickle cell disease in a humanised mouse model

Sickle cell disease (SCD) is a widespread genetic associated with severe disability and multi-organ damage, resulting in reduced life expectancy. None of the existing clinical treatments provide solution for all patients. Gene therapy fetal haemoglobin (HbF) reactivation through approaches have obtained promising, but early, results Furthermore, search active molecules to increase HbF still ongoing. The delta-globin gene produces A2 (HbA2). Although expressed at low level, HbA2 fully functional could be valid anti-sickling agent SCD. To evaluate therapeutic potential strategy aimed over-express vivo, we crossed transgenic mice carrying single copy gene, genetically modified higher level (activated), humanised mouse model activated gives rise consistent production HbA2, effectively improving SCD phenotype. For first time these demonstrate delta-globin, which lead novel cure