Thalassemia: Expert insights on types, symptoms, prevention and treatment
All about Thalassemia: From how to detect symptoms of Thalassemia to ways of preventing it, here’s all that you need to know about the disorder.
Thalassemia is an inherited blood condition that happens to the body when it has less haemoglobin than the normal standard. A protein called globin being defective due to a change in the genetic sequence leads to thalassemia. Hence, the body has lesser amount of red blood cells and haemoglobin than it should contain. Speaking to HT Lifestyle, Abhay Bhave, Hematologist – CritiCare Asia Multispeciality Hospitals said, “Words such as trait (minor or heterozygous - one gene defect), intermedia (both genes moderately affected), and major (homozygous- both genes severely affected) are used to describe how severe the thalassemia is.”
Abhay Bhave further noted down the types of Thalassemia that is prevalent in people:
Thalassemia minor: People suffering from this disorder can usually lead a normal life. Symptoms of the disorder include fatigue, lethargy and looking pale. Howver, such patients are mostly asymptomatic unless there is low haemoglobin. They are given folic acid on a daily basis and do not require transfusion support.
Thalassemia intermedia: Patients with this disorder have lesser haemoglobin than the normal, however, that is more than that of Thalassemia major. Symptoms include fatigue, shortness of breath on exertion, broad forehead, spleen, or liver enlargement. They need transfusion intermittently.
Thalassemia major: People with this disorder are usually detected within 6-9 months of birth and their haemoglobin count is very low. Symptoms include pale, unable to suck milk, and always listless and tired. They are transfusion-dependent.
“The treatment of thalassemia major needs regular quality assured blood transfusions with a filter to prevent transfusion related infections and reactions with chelation to prevent organ damage. Allogeneic bone marrow transplantation is the only cure for thalassemia major, with gene therapy being another option,” added Abhay Bhave. He further added that in order to prevent Thalassemia, awareness campaigns, prenatal testing and screening is required for high-risk groups such as pre-marital youth (18-25 years of age), antenatal women in their first trimester, parents and extended family of children with thalassemia major and any individual with a raised RBC value on CBC.