Innovative One-Time Gene Therapy Offers Hope for Rare Blood Disorder Patients

Advancements in gene therapy are paving the way for a potential cure for alpha thalassemia major, a severe inherited blood disorder. Traditionally, affected individuals require lifelong blood transfusions, which help manage symptoms but do not eliminate the underlying genetic defect. Thanks to innovative research led by Dr. Donald Kohn at UCLA, a new approach involves a one-time stem cell gene therapy that could cure the disease.

Children born with alpha thalassemia major lack all four copies of the genes necessary to produce hemoglobin, the protein responsible for oxygen transport in blood. Without sufficient hemoglobin, patients face serious health risks, including organ damage and early mortality due to iron overload from frequent transfusions. Although bone marrow transplants from donors can be curative, the challenge lies in finding suitable matches and the risk of graft-versus-host disease.

The UCLA research team has developed a gene therapy method that sidesteps these issues by using the patient’s own blood stem cells. They collect these cells, insert a missing alpha-globin gene using a viral vector, and then reintroduce the corrected cells into the patient’s body. This process restores normal hemoglobin production, potentially providing a lifelong solution.

In recent preclinical studies, this approach successfully corrected alpha-globin production in patient-derived cells, restoring healthy hemoglobin levels. The technique is based on a similar strategy that has shown success in treating other hematologic conditions, such as ADA-SCID, a severe immune deficiency.

This research is not only a scientific breakthrough but also a personal achievement for team member Eva Segura, whose dedication was motivated by her earlier exposure to gene therapy's life-saving potential during her undergraduate studies. Now pursuing her doctoral research at UCLA, she is contributing to the development of this promising treatment.

Looking ahead, the team has received funding to complete further preclinical testing and to prepare for clinical trials. The ultimate goal is to make this therapy widely available, offering children with alpha thalassemia major the chance at a normal life—free from the cycle of transfusions and associated health risks.

Source: https://medicalxpress.com/news/2025-09-gene-therapy-lifelong-transfusions-rare.html