Stem cells with edited DNA a promising treatment for blood disorder

Embargoed until: Publicly released: 2026-04-09 01:00

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The blood disorder β-Thalassaemia has been successfully treated using patients' own genetically modified stem cells in an early-stage clinical trial. The disease is caused by a lack of β-haemoglobin and is normally treated with blood transfusions, which can be arduous for patients. The researchers removed the stem cells from five patients and edited the cells' DNA to reactivate a fetal haemoglobin gene. The modified stem cells were then put back into the patients, and they were all able to stop their regular red blood cell transfusions within one month. The researchers say that while further clinical research will be needed, these results suggest that a one-time stem cell infusion could help some people to break away from their reliance on transfusions.

News release

From: Springer Nature

Medicine: Stem cell transplants effective as treatment for β-thalassaemia

Stem cell transplantation could be a rapid and effective way to restore haemoglobin production in individuals with the blood disorder β-thalassaemia, reports a study in Nature. The treatment, presented in a phase 1 clinical trial, could reduce dependence on blood transfusions in some individuals with the disease in the future, although further trials are needed to confirm these findings.

β-Thalassaemia is a blood disease characterised by an inability to correctly synthesise the β-subunit of haemoglobin, which can lead to anaemia and defects in the production of red blood cells. The defective subunit synthesis can be caused by over 350 different known mutations in the β-globin gene (HBB) and is primarily treated by regular red blood cell transfusions, which can be arduous for patients. Fetal haemoglobin (HbF, which is expressed in fetuses but declines after birth) lacks a β-subunit; thus, increasing its levels may have potential as a long-term treatment for β-thalassaemia. Elevating HbF levels could be achieved through stem cell therapies; however, clinical trials to test this approach have been lacking.

Jia Chen and colleagues present the results of a phase 1 clinical trial, in which five patients with severe β-thalassaemia received a one-time infusion of their own modified stem cells. The authors used base editing to modify specific binding sites and reactivate the gene responsible for HbF production. The participants ceased regular red blood cell transfusions within one month after the stem cell infusion. Total haemoglobin and HbF concentrations of 12.4 and 11.5 grams per decilitre of blood were observed at three months post infusion, suggesting successful production of functional haemoglobin. These levels were sustained or improved upon throughout the follow-up period, which lasted for a median of 23 months.

Further clinical research will be needed to validate the results of this treatment in a larger cohort and over a longer period. However, these results suggest that a one-time stem cell infusion could assist some patients in regaining independence from reliance on transfusions.

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conference: Nature

Research:Paper

Organisation/s: ShanghaiTech University, China

Funder: This work is supported by the National Key Research and Development Program of China (2024YFC3405902 to L.Y., 2023YFC3403402 to J.C., 2024YFA1803301 to J.C. and 2023ZD0500501 to B.Y.), the National Natural Science Foundation of China (32530057 to J.C., 32371514 to J.C., 32430018 to L.Y. and 32070170 to B.Y.), the Agriculture Science and Technology Major Project (to J.C.), the Shanghai Municipal Science and Technology Commission (23JS1400300 and 23DX1900102 to L.Y., 23ZR1442500 to B.Y., and 23YF1407400 to X.-K.M.), the Program of Shanghai Academic/Technology Research Leader (23XD1422500 to J.C.) and the Program of Shanghai Rising-Star (24QB2707400 to L.W.). We thank staff at the Molecular and Cell Biology Core Facility, School of Life Science and Technology, ShanghaiTech University for their technical support; and K. Lan, Y. Zhang and P. Li at CorrectSequence Therapeutics for their technical support. This work was also supported in part by a Shanghai Municipal Education Commission (SMEC) grant to the Shanghai Frontiers Science Centre for Biomacromolecules and Precision Medicine at the ShanghaiTech University. J.C. is a SANS Exploration Scholar.

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