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Beta Thalassaemia is a genetic blood disorder caused by mutations in the HBB gene, which affects the production of beta-globin, a component of haemoglobin. Reduced or absent beta-globin leads to inadequate haemoglobin formation and the production of fragile red blood cells. The condition is inherited when altered genes are passed from parents to their children.

Beta thalassaemia ranges from mild forms, often called thalassaemia trait, to severe disease requiring lifelong medical care. People with mild disease may have no symptoms or experience mild anaemia. Severe forms, such as beta thalassaemia major, can cause profound anaemia, weakness, pale skin, breathlessness, poor growth, and delayed development, particularly during childhood.

Regular blood transfusions are commonly required in severe cases to maintain healthy haemoglobin levels. Repeated transfusions can cause excess iron accumulation, which may damage the heart, liver, and other organs. Iron chelation therapy helps remove excess iron and reduce these complications.

Diagnosis usually involves blood tests, haemoglobin analysis, and genetic testing. Treatment depends on disease severity and may include transfusions, iron chelation, medicines, and, for selected patients, stem cell transplantation. Advances in gene-based therapies are also expanding treatment possibilities for some individuals. Early diagnosis and continuous specialist care can significantly improve health outcomes and quality of life.