Transfusion Dependent Thalassemia

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 bones

Common Causes

Mutation of beta-globin genes

Risk Factors

Family history of thalassemia or anemia

Investigation Techniques

Full blood count, Full blood picture (peripheral blood picture), Hb electrophoresis, Serum ferritin, DNA analysis, Liver function test, Skull x-ray, DNA analysis

Treatment and Prevention

Blood transfusion, Iron chelation therapy, Splenectomy, Bone marrow transplantation