Thalassemia is an inherited blood disorder caused by mutations in either alpha- or beta-globin genes, reducing the production of functional hemoglobin, the protein in red blood cells that carries oxygen. This causes a shortage of red blood cells and low levels of oxygen in the bloodstream, leading to a variety of health problems.
What is thalassemia?
Thalassemia is a blood disorder caused by inherited mutations in the alpha- or beta-globin genes. As a result, the body is not able to make enough hemoglobin, an important part of red blood cells. People with alpha- and beta-thalassemia can experience a range of symptoms, including anemia, debilitating fatigue, jaundice, facial bone deformities, delayed growth and development, abdominal swelling and dark urine.
There are no currently approved therapies for alpha-thalassemia and limited options for beta-thalassemia. Current management strategies for beta-thalassemia include red blood cell transfusions, splenectomy and stem cell transplant, which are associated with short- and long-term risks.
Find out more about our clinical trials in thalassemia and talk to your doctor if you’re interested in participating in studies that are currently recruiting.
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Building on our core capabilities in cellular metabolism, we are advancing a robust pipeline focused on genetically defined diseases, including thalassemia.
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