New Delhi: Thalassemia is an inherited blood disorder that affects the body’s ability to produce ‘hemoglobin’, a protein found in red blood cells that transports oxygen throughout the body. The condition is caused by a mutation in the gene responsible for the production of hemoglobin, leading to low or abnormal hemoglobin production.
As we celebrate World Thalassemia Day on 8th May, Dr Vibha Naik, Senior Consultant Medical Oncologist and Hematologist, Bone Marrow Transplant Physician Shares insights on the causes, symptoms, and diagnosis and treatment of thalassemia.
due to thalassemia
Thalassemia is caused by a mutation in the HBB gene, which provides the instructions for making the beta-globin protein that is an important component of hemoglobin. Based on the nature and severity of the mutation, thalassemia can be classified into two major types: ‘alpha-thalassemia’ and ‘beta-thalassemia’. Alpha-thalassemia occurs when there is a mutation in the gene responsible for producing the alpha-globin protein, while beta-thalassemia occurs when there is a mutation in the HBB gene that produces the beta-globin protein. Thalassemia can be classified as minor, intermediate or major depending on the number of mutated genes and the severity of the condition.
Symptoms and diagnosis of Thalassemia
Depending on the type and severity of the condition, the symptoms of thalassemia can vary. Individuals with thalassemia minor may not show any symptoms, while those with thalassemia major may experience severe anemia, fatigue, jaundice, and an enlarged spleen. In addition, some people with thalassemia may develop other complications such as bone deformities, delayed growth and development, and heart problems.
To diagnose thalassemia, blood tests can be done to determine the level of hemoglobin, Hb electrophoresis or HPLC. In addition, genetic testing can be done to identify any mutations in the genes that cause thalassemia. Bone marrow tests are rarely done.
treatment of thalassemia
There is currently no cure for thalassemia, but there are treatments available that can help manage the symptoms and complications of the condition. Blood transfusions may be given to replace low red blood cells and to improve the oxygen-carrying capacity of the blood. Iron chelation therapy may also be used to remove excess iron that may have accumulated due to repeated blood transfusions. Luspatercept is an erythroid stimulating agent which is a newer drug for the treatment of thalassemia. Bone marrow transplant is a curative treatment option that involves replacing the patient’s bone marrow with healthy donor cells.
living a healthy life with thalassemia
While thalassemia can have a significant impact on a person’s quality of life, there are steps that can be taken to live a healthy life with the condition. Maintaining a balanced and healthy diet, engaging in regular physical activity, and avoiding exposure to infections can all help reduce the risk of complications. In addition, individuals with thalassemia should have regular medical checkups and follow their healthcare provider’s recommendations for treatment and management of the condition.
In conclusion, while thalassemia can present its own challenges, with proper care and management, individuals with the condition can still lead happy and fulfilling lives. It is important to raise awareness of thalassemia and support research efforts to better understand and treat the condition. Ultimately, by investing in research, education, and advocacy, we can improve the lives of individuals and families affected by thalassemia and other genetic disorders.