This Experimental Gene Therapy Could Make Blood Transfusions Obsolete

Newly-developed gene therapy for beta thalassemia could lessen a patient's need for lifelong blood transfusions.

Patient receiving a blood transfusion in a hospital clinic.
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Newly-developed gene therapy for beta thalassemia could lessen a patient's need for lifelong blood transfusions.

People who suffer from beta thalassemia, one of the most common blood disorders, require regular transfusions to keep their life-threatening anemia at bay.

However, this may not be the case in the future, suggests a new study that came out today (April 19) in the New England Journal of Medicine.

The research explores an experimental treatment designed to help beta thalassemia patients become less dependent on blood transfusions by correcting a genetic mutation that prevents them from producing healthy blood cells, MIT Technology Review reports.

The new gene therapy is designed to be administered only once and thereby curbs the need for long-term blood transfusions. The treatment may even eliminate the necessity of donor blood altogether, depending on how advanced the beta thalassemia is.

This revolutionary treatment involves a one-time transplant in which the patients receive their own stem cells, which have been genetically modified to treat the inherited blood disorder, notes CNN.

As an added bonus, the gene therapy dispenses with some of the issues that sometimes come with the procedure, such as restricted “donor availability and transplantation-related risks,” the authors write in their paper.

According to NPR, the experimental treatment is being developed by the Bluebird Bio company from Cambridge, Massachusetts. The firm is already looking to get their gene therapy approved in Europe by the end of the year based on the study’s very promising results.

The research involved participants from the United States, Australia, and Thailand, aged 15 to 35.

Of the 22 patients enrolled in the experiment, 15 were able to either drastically curb or even do without the regular blood transfusions that were, until then, keeping them alive.

Thirteen of these 22 patients had a milder form of beta thalassemia and all of them, save one, were able to give up their regular blood transfusions after receiving the novel gene therapy.

The remaining nine patients in the study suffered from a more severe form of the disease. In their case, the blood transfusions were discontinued for three people and reduced by 73 percent for the other six, the researchers note in the paper.

“For the first time ever, we have a treatment that we might offer to all our patients,” study co-author Mark Walters, of the University of California in San Francisco, said in a statement.

Although the gene therapy fared so well in the experimental trial and none of the participants reported any serious side effects, the scientists emphasize that further research is needed to evaluate the safety and efficacy of this treatment.

Beta thalassemia affects between 10,000 to 15,000 people in the United States. Worldwide, the number of people plagued by this inherited blood disorder is estimated at 288,000.

The standard option for curing this malady is a bone marrow transplant from a sibling, states Dr. Thompson.

In her opinion, the greatest advantage of the new gene therapy is that it “actually allows us to envision treating thalassemia with curative intent using the patient as their own donor.”