This information supports, and does not replace, advice from your healthcare professional.
Overview
Thalassaemia is an inherited blood disorder characterized by reduced production of hemoglobin, leading to anemia and other complications.
Symptoms
Fatigue and weakness Pale or yellowish skin Delayed growth and development Bone deformities, especially in the face Enlarged spleen
Causes
Inherited genetic mutations affecting hemoglobin production Both parents must carry the thalassaemia gene for severe forms
Diagnosis
Blood tests (complete blood count, hemoglobin electrophoresis) Genetic testing for mutations Family history assessment
Treatment
Regular blood transfusions for severe cases Iron chelation therapy to remove excess iron Folic acid supplements Bone marrow or stem cell transplantation in selected patients