Researchers at the Children’s Hospital of Philadelphia have unveiled Zynteglo, an FDA-approved gene therapy that “cures” beta-thalassemia by reprogramming a patient’s own stem cells to produce healthy hemoglobin.
Beta-thalassemia is a genetic blood disorder where the body cannot produce enough beta-globin, a key part of hemoglobin — the protein in red blood cells that carries oxygen. When beta-globin is missing or low, red blood cells can’t function properly, leading to anemia (a shortage of healthy red blood cells).
What Causes Beta-Thalassemia?
Beta-thalassemia happens because of changes (mutations) in the HBB gene on chromosome 11. This gene tells the body how to make beta-globin.
- If one parent passes down a faulty gene, the person is a carrier and usually has mild or no symptoms (beta-thalassemia minor).
- If both parents pass faulty genes, the child can have moderate (intermediate) or severe (major) thalassemia.
In a one-time treatment, clinicians harvest bone-marrow stem cells, insert a correct copy of the beta-globin gene in the lab, then reinfuse the cells after a brief chemotherapy regimen to make room in the marrow.
This personalized approach sidesteps the limitations and allergic risks of donor-derived antigens found in traditional transfusions and serum therapies.
The historic first recipient was 12-year-old Rahemeen Nabeel of Cherry Hill, New Jersey, who endured regular transfusions and debilitating pain crises until her treatment at CHOP in early 2025.
Within weeks of reinfusion, Rahemeen’s hemoglobin levels stabilized in the normal range, her chronic pain vanished, and she regained energy to join sports and clubs — activities she’d long missed. Her mother, Zainab, marveled that “it was like a nightmare, but also like a really big blessing” as they witnessed the transformation.
While Zynteglo’s preconditioning phase uses chemotherapy drugs that carry short-term side effects such as nausea and infection risk, experts agree that the lifelong freedom from transfusions and hospital visits far outweighs these manageable risks.
With over 100,000 people worldwide living with transfusion-dependent beta-thalassemia, this breakthrough could redefine standard care and dramatically reduce healthcare burdens in underserved regions.
Moreover, Zynteglo’s success is a proof-of-concept for gene therapies targeting other inherited disorders, from sickle cell disease to rare metabolic conditions.
“Our hope for gene therapy was for Rahemeen to live a long, healthy life without needing any more transfusions.”
— Zainab Nabeel, mother of the first patient
For the full story on this life-changing advance, head over to Good News Network and read the article in its entirety!
