Rare & Orphan Diseases > Beta Thalassemia

Beta Thalassemia (a cousin to Sickle Cell Disease) is a rare, inherited blood disorder caused by mutations in the hemoglobin beta (“HBB”) gene, which prevents the body from properly producing hemoglobin, the protein in red blood cells that transports oxygen to organs and tissues. While Beta Thalassemia affects a large population of children worldwide – most often people who are of Mediterranean (Greek, Italian, and Middle Eastern), Asian or African descent – it is rare in the United States and the disease is overlooked.

The patients often develop severe anemia, which can cause damage to the heart, liver, and hormone producing glands, and they may suffer from bone deformities, enlarged spleens, delayed growth rates, and congenital heart failure.

The only established cure for Beta Thalassemia and SCD is a bone marrow or stem cell transplant, yet fewer than 25% of patients have compatible donors. Short of such a transplant, people with Beta Thalassemia require blood transfusions (every 14 to 28 days), which in turn, require them to undergo painful iron chelation medications to reduce iron build-up in the blood from the transfusions themselves. Even with frequent blood transfusions, Beta Thalassemia most often results in death by the time a person reaches their late 20s. Indeed, the average age of mortality is twenty-eight years.

San Rocco Therapeutics is developing a potential curative treatment for the blood disorders, Sickle Cell Disease and Thalassemia, using gene therapy. This therapy was formerly developed under the trade name Thalagen and is currently being enhanced with improved technology and manufacturing to increase safety and efficacy.

SRT’s long-term goal is to make its gene therapy available to β-Thalassemia and Sickle Cell Disease patients at affordable prices worldwide.