Thalassaemia major, also known as Cooley's anaemia, is a severe hereditary blood disorder characterized by the production of abnormal haemoglobin, which is responsible for carrying oxygen in the red blood cells. This condition is caused by mutations in the genes involved in haemoglobin production, leading to the body's inability to produce sufficient amounts of functional haemoglobin.
Individuals with thalassaemia major experience a significant reduction or complete absence of beta-globin chains, resulting in the inadequate formation of adult haemoglobin (HbA). As a consequence, the affected individuals suffer from severe anaemia and chronic fatigue due to the lack of efficient oxygen transportation throughout the body. Other common symptoms include pale skin, enlarged spleen, bone deformities, delayed growth, and frequent infections.
The management of thalassaemia major typically involves regular blood transfusions to alleviate symptoms of anaemia and replenish the necessary oxygen-carrying red blood cells. However, frequent transfusions can also lead to iron overload in the body, which necessitates regular chelation therapy to remove excess iron and prevent related complications such as organ damage.
Furthermore, thalassaemia major may require additional treatments like folic acid supplementation, vitamin D supplementation, and genetic counseling for affected individuals and their families. Currently, bone marrow transplantation is the only curative option for thalassaemia major, although it is associated with certain risks and limitations.
The long-term prognosis for individuals with thalassaemia major depends on the adherence to treatment protocols, the availability of healthcare resources, and the overall management of the associated complications. With proper medical care, affected individuals can lead relatively normal lives.
