On the occasion of World Thalassaemia Day 2025, health experts stress the importance of early detection and screening for effective management of this genetic blood disorder.
New Delhi: Thalassaemia is an inherited blood disorder that affects the body's ability to produce haemoglobin, the protein in red blood cells responsible for carrying oxygen. It is primarily classified into alpha and beta thalassaemia, depending on the haemoglobin chain affected. Among these, beta-thalassaemia major is the most severe form, typically manifesting in infancy and requiring lifelong blood transfusions.
According to Dr Vishnu Hari, Senior Consultant & Head - Medical Oncology, Sarvodaya Hospital, Faridabad, early detection plays a vital role in improving the quality of life of patients and preventing serious complications. “One of the challenges is that carriers of the thalassaemia trait often remain asymptomatic. However, if both parents carry the trait, there's a significant risk of passing on thalassaemia major to their children,” he explains.
Why Early Detection Matters
Early diagnosis can dramatically change the course of thalassaemia. Newborn screening programmes, which test for abnormal haemoglobin levels, are essential in identifying affected infants before symptoms develop. Genetic screening for carriers, particularly during family planning or prenatal care, can help couples make informed decisions and prevent the birth of a severely affected child.
Timely diagnosis can help prevent complications such as:
- Severe anaemia
- Heart and liver damage
- Growth delays
- Bone deformities
The Role of Prenatal Screening
Tests such as High-Performance Liquid Chromatography (HPLC) and haemoglobin electrophoresis are effective in identifying thalassaemia carriers, and can be conducted as early as the first trimester of pregnancy. If a pregnant woman tests positive for the trait, it is essential for her partner to be tested as well. If both are carriers, foetal testing via amniocentesis or chorionic villus sampling (CVS) can confirm whether the foetus has thalassaemia major. In such cases, counselling and appropriate medical advice are provided to the parents.
Benefits of Early Diagnosis
Once diagnosed, patients can begin personalised treatment early, which may include:
- Regular blood transfusions
- Iron chelation therapy to manage iron overload
- Bone marrow transplants, which offer a potential cure in eligible cases
- Gene therapy, a promising area for future treatment
Early monitoring ensures that these interventions begin before irreversible damage occurs. Additionally, genetic counselling empowers carriers with the knowledge to make informed reproductive choices.
Challenges and the Way Forward
Despite its benefits, early detection of thalassaemia faces several hurdles, especially in low-resource settings. These include:
- Limited access to screening
- Lack of awareness
- Cultural stigma surrounding genetic disorders
To overcome these barriers, experts recommend:
- Incorporating thalassaemia screening into routine health check-ups
- Public awareness campaigns to dispel myths and encourage testing
- Government and community collaboration to make screening more accessible and affordable
Conclusion
Thalassaemia is a manageable condition when detected early. With increased awareness, proactive healthcare policies, and comprehensive screening programmes, affected individuals can lead healthier, more fulfilling lives. On World Thalassaemia Day 2025, let us prioritise early detection and work collectively towards a future where this disorder is effectively controlled through timely intervention and education.
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