Beta-thalassemia is a blood disorder resulting in the reduction of haemoglobin production, the molecule which carries oxygen around our bodies. Patients suffer with a number of symptoms including; delayed growth, bone problems, liver and gall bladder problems, with a significantly shorter life expectancy. Current treatment is largely limited to frequent blood transfusions. This immortalised cell line is designed to enable the study of the diseased red blood cells as they develop to gain a better understanding of the aetiology. By reducing variability in place of ad-hoc patient samples it enables increased reliability and faster development of new therapeutics.

Congenital dyserthropoietic anaemia IV (CDA IV) is a rare red blood cell disorder caused by mutation of E325K of KLF1. CDA IV is a severe form of anaemia where patients present with splenomegaly, iron overload and a number of other symptoms meaning that they are transfusion dependent. To address the scarcity of donated patient material for research ( 11 patients reported to date) the Frayne group have created a model system accurately recapitulating the phenotype of developing erythroid cells from patients with CDA IV. This model therefore allows extensive interrogation of the disease to understand the underlying molecular defects and aid in the discovery of novel treatments. This work has been published in the journal Blood.