Medical Services

Beta thalassaemia is a genetic blood disorder caused by mutations in the HBB gene, which reduces or prevents the production of beta-globin chains, an essential part of haemoglobin. Without enough functional haemoglobin, red blood cells become fragile and are destroyed prematurely, resulting in chronic anaemia. The condition is inherited in an autosomal recessive pattern and is commonly classified as beta thalassaemia minor, intermedia, or major, depending on disease severity.

People with beta thalassaemia minor usually experience mild or no symptoms and may only have slight anaemia. Beta thalassaemia intermedia causes moderate anaemia and may require occasional blood transfusions. Beta thalassaemia major, also known as Cooley's anaemia, is the most severe form and typically presents during infancy with severe anaemia, poor growth, bone deformities, enlarged spleen, and delayed development. Regular blood transfusions are often necessary to maintain healthy haemoglobin levels.

Diagnosis includes complete blood count (CBC), haemoglobin electrophoresis, and genetic testing to confirm the mutation. Long-term treatment may involve lifelong blood transfusions, iron chelation therapy to prevent iron overload, folic acid supplementation, and careful monitoring for complications affecting the heart, liver, and endocrine system. In selected patients, stem cell transplantation or emerging gene-based therapies may offer the possibility of long-term disease control or cure. Early diagnosis and comprehensive care greatly improve survival and quality of life.