Yusara Ahmed was prepared to take action when she learned that her son Yusuf was diagnosed with beta thalassemia, an uncommon blood disorder. Yusara’s sister also lived with the disease, so she understood that her son would have to rely on blood transfusions in order to survive. She held out hope that he could eventually get a stem cell transplant, but the boy’s twin sister was unfortunately not a match.
Then one of the family’s physicians informed them about a new method of treatment that was on the horizon: gene therapy. However, it was still in the early stages of development. Years passed, Yusuf got older, and he continued to struggle with his disorder.
Finally, in 2022, the FDA approved the one-time gene therapy betibeglogene autotemcel (marketed as Zynteglo). The time for Yusuf’s treatment came in January 2024, when he was eight years old. He would be the first patient in New York state to receive the treatment. The gene therapy is developed for each individual patient using the patient’s own donated stem cells. Then, the patient is treated with chemotherapy to get rid of some of the remaining stem cells so that there is space for the new, modified stem cells to proliferate.
Today, Yusuf appears to be improving. His bone marrow has returned, and his hemoglobin levels appear to be steadily increasing. Yusara hopes for the family to visit relatives in Pakistan once his recovery appears complete.
More recently, the FDA cleared an additional gene therapy treatment for beta thalassemia: exagamglogene autotemcel (marketed as Casgevy). While these treatments have astronomical prices of over $2 million, if the effects are practically curative, then manufacturers can make the case to insurers that the approach is, in the long run, cost-effective. Overall, things are looking promising for people living with beta thalassemia.
About Beta Thalassemia
Beta thalassemia is a group of genetic disorders which affect the blood. These disorders are characterized by the abnormal production of hemoglobin, the substance in red blood cells which allows them to transport oxygen. The severity of the disorder can vary widely from person to person and depends on the present mutation. These mutations affect the HBB gene which is found on chromosome 11. These mutations can be easily passed down within families. Symptoms of beta thalassemia major, the most severe form, include spleen problems, skeletal abnormalities, poor growth, anemia, liver problems, diabetes, osteoporosis, and heart failure. Treatment for beta thalassemia may include blood transfusions, surgery, gene therapy and bone marrow transplant, which can be curative for some children. With the latest treatments, outcomes for patients have improved in recent years. To learn more about beta thalassemia, click here.
