Exclusive: World Thalassemia Day 2023- Understanding Causes, Symptoms, Diagnosis And Treatment

New Delhi: Thalassemia is an inherited blood disorder that affects the body's capacity to produce 'haemoglobin,' a protein found in red blood cells that transports oxygen throughout the body. The condition is caused by mutations in the genes responsible for the production of haemoglobin, leading to reduced or abnormal haemoglobin production.  

As we mark World Thalassemia Day on May 8, Dr Vibha Naik, Sr. Consultant Medical Oncologist & Haematologist, Bone Marrow Transplant Physician, Sterling Hospital shares insights on the causes, symptoms and diagnosis and treatment of Thalassemia. 

Causes of Thalassemia 

Thalassemia is caused by mutations in the HBB gene, which provides instructions for making the beta-globin protein that is a crucial component of hemoglobin. Depending 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 are mutations in the genes responsible for producing alpha-globin protein, while beta-thalassemia occurs when there are mutations in the HBB gene that produces beta-globin protein. Thalassemia can be further categorized as minor, intermediate, or major based on the number of mutated genes and the severity of the condition. 

Symptoms & Diagnosis of Thalassemia 

Depending on the type and severity of the condition, the symptoms of thalassemia may vary. Individuals with minor thalassemia may not show any symptoms, while those with major thalassemia may experience severe anaemia, fatigue, jaundice, and an enlarged spleen. In addition, some people with thalassemia may develop bone deformities, delayed growth and development, and other complications such as heart problems. 

To diagnose thalassemia, a blood test can be performed to determine the levels of haemoglobin, Hb Electrophoresis or HPLC. In addition, genetic testing can be conducted to identify any mutations in the genes causing Thalassemia. Rarely a Bone Marrow test is performed. 

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 can be given to replace the deficient red blood cells and improve the oxygen-carrying capacity of the blood. Iron chelation therapy can also be used to remove excess iron that may accumulate due to frequent blood transfusions. Luspatercept is erythroid stimulating agent a newer drug to treat Thalassemia. Bone marrow transplant is a curative treatment option that involves replacing the patient's bone marrow with healthy donor cells. 

Leading a Healthy Life with Thalassemia

While thalassemia can have significant impacts on an individual's quality of life, there are steps that can be taken to lead 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 receive regular medical check-ups and follow their healthcare provider's recommendations for treatment and management of the condition. 

In the end, while thalassemia may present its challenges, with proper care and management, individuals with this condition can still lead happy and fulfilling lives. It is important to continue raising awareness about thalassemia and supporting research efforts to better understand and treat this condition. Ultimately, by investing in research, education, and advocacy, we can improve the lives of individuals and families impacted by thalassemia and other genetic disorders.