Beta
thalassemia
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Vertex is focused on discovering, developing and producing innovative medicines so people with serious diseases can lead better lives. Our scientists don’t see the impossible as an obstacle; they see it as a good place to start.
About beta thalassemia
Beta thalassaemia is an inherited blood disorder that affects the red blood cells, which are essential for carrying oxygen to all organs and tissues of the body. A lack of red blood cells, also known as anaemia, is the primary manifestation of beta thalassaemia. Because of this anaemia, people living with beta thalassaemia may experience fatigue and shortness of breath, and infants may develop failure to thrive, jaundice and feeding problems.
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In the UK, it is estimated 1500 people have a form of Beta thalassaemia.1
How is beta thalassemia diagnosed? Beta thalassemia is diagnosed based on characteristic symptoms and a set of tests, including blood tests and genetic testing. People with the disease are often diagnosed before age 2, typically around 3-6 months.
What is the underlying cause of disease? Beta thalassemia is caused by a mutation in the beta-globin (HBB) gene. The HBB gene encodes for a key component of haemoglobin, the oxygen-carrying molecule in red blood cells. This mutation leads to issues with the production of haemoglobin, leading to anaemia.
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UKTS. What is thalassaemia. Last accessed May 2024