The aim of this thesis is to discuss the incidence, aetiology, clinical manifestation, diagnosis and pharmacological management of beta thalassemia major. Beta thalassemia is caused by an inactivating mutation in beta gene leading to loss of adult hemoglobin chains, a compromised oxygen carrying capacity and severe anaemia. The disease is prevalent in the Mediterranean and Middle East region. The therapy is focused on transfusion and iron chelation while treating the complications. For patients who may have a HLA matched sibling, bone marrow transplantation should be pursued as a treatment. Targeted gene therapy technologies such as CRISPR are being tested and may be used to correct gene mutations in the future.