Thalassemia is a genetic disorder that affects the production of haemoglobin, leading to a shortage of red blood cells and resulting in anaemia. Individuals with thalassemia major require frequent blood transfusions and are at an increased risk of infections, as well as other health complications like hepatomegaly, splenomegaly, and bone issues. World Thalassemia Day is observed annually on May 8 to raise awareness about this genetic disorder, support individuals living with thalassemia, promote research for a cure, and dispel myths surrounding the disease.
History of World Thalassemia Day:
In 1994, the Founder of Thalassemia International Federation (TIF), Panos Englezos, established World Thalassemia Day in memory of his son George, who passed away due to thalassemia. The day was created to combat the disease, honor those who lost their lives to it, and work towards finding a cure. It also aimed to unite the general public, public authorities, healthcare professionals, and industry representatives to raise awareness about the prevention, management, and treatment of thalassemia.
Celebration of World Thalassemia Day:
On World Thalassemia Day, various activities and events are organized by healthcare institutions, patient support groups, and community organizations. These activities may include educational seminars, blood donation drives, fundraising events for thalassemia research and patient support, awareness campaigns through media and social platforms, and advocating for improved healthcare policies and services for thalassemia patients.
Diagnosis:
Diagnostic tests such as haemoglobin electrophoresis and DNA analysis are used to confirm the type and severity of thalassemia. Prenatal diagnosis through techniques like Chorionic Villus Sampling (CVS) and Amniocentesis can help determine the status of the fetus. Preimplantation genetic testing (PGT-M) allows for screening embryos to select a healthy one for implantation. Early detection is key in proactive management, including treatment plans and family planning decisions. Genetic counseling and accessible screening programs play a crucial role in prevention and improving outcomes for individuals with thalassemia.
Experts also emphasize the importance of early detection through blood tests like Hb HPLC in managing thalassemia and ensuring the well-being of future generations. Premarital screening can help couples make informed decisions about family planning and prenatal care. By promoting awareness, proactive measures like genetic counseling, and early detection, the burden of thalassemia on families and healthcare systems can be alleviated, leading to healthier outcomes for all.
