Thalassaemia

Thalassaemia is a group of inherited blood disorders characterised by reduced or absent production of haemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. The condition occurs due to genetic mutations affecting the alpha or beta globin chains of haemoglobin, resulting in alpha-thalassaemia or beta-thalassaemia. Depending on the severity, symptoms may range from mild anaemia to life-threatening complications.

Individuals with thalassaemia commonly experience fatigue, weakness, pale skin, shortness of breath, dizziness, delayed growth, poor appetite, and enlarged spleen or liver. Severe forms, such as thalassaemia major, often develop during infancy and require regular blood transfusions to maintain healthy haemoglobin levels. Repeated transfusions may lead to iron overload, which can damage the heart, liver, and endocrine glands if not properly managed.

Diagnosis involves complete blood count (CBC), peripheral blood smear, haemoglobin electrophoresis, iron studies, and genetic testing. Treatment depends on disease severity and may include folic acid supplements, regular blood transfusions, iron chelation therapy to remove excess iron, and management of associated complications. In selected patients, stem cell or bone marrow transplantation may provide a potential cure. Genetic counselling and carrier screening are important for families at risk. With early diagnosis, appropriate treatment, and regular follow-up, many people with thalassaemia can achieve improved health and quality of life.