Author(s) :

Yael Amematekpo.

Volume/Issue :

Abstract :

Beta thalassemia is a serious genetic blood disorder that affects thousands of people around the world, especially in regions like the Mediterranean, the Middle East, South Asia, and parts of Africa. It happens when a person inherits mutations in the HBB gene, which is responsible for making hemoglobin, the protein in red blood cells that carries oxygen throughout the body. These mutations reduce or block the production of healthy hemoglobin, leading to chronic anemia, fatigue, organ complications, and in severe cases, lifelong dependence on blood transfusions. Despite the availability of supportive treatments like iron chelation therapy and stem cell transplants, most options only manage symptoms rather than cure the disease. This is where CRISPR-Cas9, a powerful tool that can directly modify the DNA responsible for the condition. Instead of treating symptoms over a lifetime, CRISPR offers the possibility of a one-time, long-lasting solution. Casgevy is a new CRISPR-based therapy developed by Vertex Pharmaceuticals and CRISPR Therapeutics, and is currently being used in clinical trials to help patients with transfusion-dependent beta thalassemia and sickle cell disease by reactivating fetal hemoglobin production. Early results are promising: patients who once needed frequent transfusions have been able to live transfusion-free for over a year. This paper explores beta thalassemia, the science behind CRISPR-Cas9 gene editing, the mechanism and outcomes of Casgevy, and the ethical and medical considerations of deploying such technologies.