World Thalassaemia Day 2023: Thalassemia is a rare genetic blood disorder, leading to anemia or a deficiency of haemoglobin, the protein that carries oxygen throughout the body. The condition impacts the body's ability to produce healthy red blood cells carrying oxygen throughout the body.
There are two main types of thalassemia, beta thalassemia (mutation in HBB gene) and alpha thalassemia (mutations in HBA1/HBA2 genes). Both diseases are autosomal recessive genetic disorders. India is called the Thalassemia capital of the world with over 42 million beta Thalassemia carriers or people with thalassemia minor status. The severity of Thalassemia depends on the specific mutations and the degree of impairment in globin production. Individuals with thalassemia may experience symptoms of anemia such as fatigue, weakness, shortness of breath, pale skin, and jaundice. In severe cases, thalassemia can also cause bone deformities, enlarged spleen, and heart failure. Diagnosis of thalassemia is based on clinical symptoms and laboratory tests showing elevated HbF (fetal hemoglobin) on HPLC or electrophoresis. HPLC and electrophoresis is a good population screening tool.
How genetic causes impact production of healthy red blood cells?
DNA-based or genetic tests play a crucial role in the diagnosis and management of thalassemia. Such tests help in for accurate diagnosis and classification of the type and severity of the condition. By utilizing genetic tests for carrier screening and diagnosis, as well as identifying specific mutations and deletions/duplications associated with thalassemia, precision medicine can be used to tailor treatments to an individual's genetic makeup, offering a more personalized approach to managing this condition. Additionally, genetic counselling can help individuals and families at risk for thalassemia make informed decisions about family planning and potential treatments.
Effective treatments for Thalassemia include blood transfusions and bone marrow transplants depending on the type and severity of the condition. Managing complications, such as iron overload with oral or subcutaneous iron chelating agents is also an important aspect of thalassemia treatment. Gene therapy, Zynteglo has recently been approved for beta thalassemia.
Genetic tests and precision medicine approaches offer new and innovative ways to diagnose and manage thalassemia. As research in this field continues to advance, these approaches may provide more effective and personalized treatments for individuals with Thalassemia.
(This article is attributed to Dr.Vasundhara Tamhankar, Clinical Geneticist and Paediatrician, MedGenome Labs & CMG, Mumbai.)
(Disclaimer: The opinions expressed in this article are those of the author. They do not reflect the views of India TV)