Overview
Transfusion Dependent Thalassemia refers to thalassemia patients who are dependent on blood transfusion for them to be a fully functioning individual. It is also known as Thalassemia Major. It occurs due to gene defect where there's mutation in the beta globin genes.Signs and Symptoms
Fatigue, Weakness, Anemia (pallor), Jaundice (yellowish skin and eyes), Growth failure or retardation, Prominent forehead, Maxillary overgrowth, Malocclusion of teeth, Hepatosplenomegaly, Weak bonesCommon Causes
Mutation of beta-globin genesRisk Factors
Family history of thalassemia or anemiaInvestigation Techniques
Full blood count, Full blood picture (peripheral blood picture), Hb electrophoresis, Serum ferritin, DNA analysis, Liver function test, Skull x-ray, DNA analysisTreatment and Prevention
Blood transfusion, Iron chelation therapy, Splenectomy, Bone marrow transplantation
