Thalassaemia

Thalassaemia is an inherited blood disorder in which the body produces insufficient or abnormal haemoglobin, the protein responsible for carrying oxygen throughout the body. Reduced haemoglobin production can lead to anaemia, fatigue, weakness, pale skin, and shortness of breath. The severity of thalassaemia varies depending on the affected genes and the type of disorder.

Thalassaemia is broadly classified into alpha and beta thalassaemia, based on which haemoglobin chain is affected. Some individuals have mild forms with few or no symptoms, while severe forms may cause significant anaemia from early childhood. Children with severe thalassaemia may require regular blood transfusions to maintain adequate haemoglobin levels.

Repeated transfusions can cause excess iron accumulation in organs, potentially affecting the heart, liver, and endocrine system. Iron chelation therapy may therefore be necessary to remove excess iron. Other treatments may include folic acid supplementation, careful monitoring, and, in selected patients, haematopoietic stem cell transplantation.

Diagnosis commonly involves a complete blood count, peripheral blood examination, haemoglobin analysis, and genetic testing when required. Genetic counselling can help families understand inheritance patterns and reproductive risks. Early diagnosis, appropriate monitoring, and comprehensive treatment can significantly improve health outcomes and quality of life for people living with thalassaemia.