World Thalassaemia Day 2025 — A Silent Genetic Disorder That Can Be Prevented Through Awareness And Screening

{By: Dr. Himanshu Khan}

Thalassaemia remains a pressing public health challenge in India, largely due to limited awareness and the lack of timely screening. Contrary to common misconceptions, Thalassaemia is not an infectious disease. It is an inherited blood disorder caused by genetic mutations that impair the body’s ability to produce normal hemoglobin—the vital protein in red blood cells responsible for carrying oxygen. Often misunderstood, Thalassaemia cannot be “caught” like a virus. It is passed from parent to child when both parents carry the defective gene. 

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Understanding the Impact of Thalassaemia Major and Minor

While individuals with Thalassaemia Minor (carriers) typically live normal, symptom-free lives, a child born with Thalassaemia Major faces lifelong medical dependence and complications.

Children with Thalassaemia Major require regular blood transfusions—sometimes every few weeks—and iron chelation therapy to remove excess iron from their bodies. The condition manifests through symptoms such as persistent fatigue, pale or yellowish skin, slowed growth, and skeletal deformities. Over time, it can severely impact vital organs like the heart and liver.

The Importance Of Early Screening And Prevention

Though bone marrow or stem cell transplantation offers a potential cure, it is costly, requires a suitable donor match, and is not universally accessible. As such, prevention remains the most effective strategy for managing the burden of Thalassemia.

The key to prevention lies in early screening. A simple, low-cost blood test known as Hemoglobin Electrophoresis can detect if a person is a carrier of the Thalassaemia gene. If both partners are carriers, there is a 25% chance with each pregnancy that their child will inherit Thalassaemia Major.

The Need For Awareness And Policy Interventions

In regions with high carrier prevalence, particularly in parts of India, premarital screening and genetic counseling are essential tools for prevention. This is not merely a clinical recommendation—it is a social and moral responsibility. By choosing awareness and timely testing, we can protect future generations from avoidable suffering.

As India marks Thalassaemia Day on May 8th, it’s time to reinforce the urgency for widespread awareness campaigns, school and college-level screening programs, and policy-level interventions. These collective efforts are vital in curbing the rise of this preventable disorder.

The author, Dr. Himanshu Khan, is a Consultant Physician at ILS Hospitals.

[Disclaimer: The information provided in the article, including treatment suggestions shared by doctors, is intended for general informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with any questions you may have regarding a medical condition.]

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