Thalassemia

Thalassemia is a genetic disorder in which there is reduced production of healthy red blood cells and normal hemoglobin. Hemoglobin is an iron-rich protein in red blood cells that carries oxygen to cells throughout the body. The protein in hemoglobin is having two parts. One is called alpha globin and other is called beta globin. The specific hemoglobin protein affected in beta thalassemia is the beta globin.Thalassemia affects nearly 200 million people across the world. In India 10,000 children are born with thalassemia major every year, which is a severe form of thalassemia requiring blood transfusion every month to survive.

Based on their clinical severity and transfusion requirements, thalassemia syndromes can be classified into three main groups –

• Transfusion Dependent Thalassemia (TDTs)
  Transfusion Dependent Thalassemia (TDTs) requires regular blood transfusion for a patient to survive. Without adequate transfusion support, they can suffer several complications and have a short life. This includes beta thalassemia major.
• Non-transfusion-dependent thalassemia (NTDT)
  Non-transfusion-dependent thalassemia (NTDT) patients do not require lifelong regular transfusions for survival, but they may require occasional or even frequent transfusions in certain clinical settings.
• Third group includes persons with Thalassemia minor/Trait who have mild anaemia only. They do not need any treatment

Signs and symptoms of beta Thalassemia

• Pale skin
• Poor appetite
• Dark urine
• Yellowish skin or whites of the eyes (jaundice)
• Slowed growth and delayed puberty
• Enlarged spleen, liver or heart
• Bone problems

Treatment of Beta Thalassemia

Treatment for beta thalassemia is based on the type and severity of the disorder. People who have beta thalassemia trait usually have mild or no symptoms and they need no treatment. Three standard treatments are used for moderate and severe forms of the disorder:

• Blood transfusions
  Blood transfusions are the main treatment for people with moderate or severe beta thalassemia. This treatment provides healthy red blood cells with normal hemoglobin. Because red blood cells only live about three months, repeated transfusions may be needed to maintain a healthy supply of red blood cells.
• Iron chelation therapy
  Repeated transfusions can cause excess iron deposition in body.Iron chelators are required to remove excess iron from body. Three drugs are used for chelation therapy:
  • Deferoxamine
  • Deferasirox
  • Deferiprone
• Bone marrow transplant or Allogenic haematopoeitic stem cell transplant
  It is the only curative treatment for this disease.

Survival rates for beta thalassemia

Nowadays people with moderate or severe forms of the disorder are living longer with better quality of life. Genetic counselling plays an important role in prevention of this disease.