Thalassemia remains a pressing health issue in India, with the country bearing a significant burden of this hereditary disorder. Despite advancements in treatment, the condition continues to affect thousands each year, highlighting the need for awareness, prevention, and effective management strategies.

Thalassaemia, a hereditary blood disorder, occurs when the body fails to produce and sustain effective haemoglobin, a critical component of red blood cells, explains Dr. Liza Bulsara, Consultant - Haematology, Hemato Oncology & BMT, Jupiter Hospital, Pune. This results in insufficient red blood cells, leading to low haemoglobin levels and impaired growth and development.

"Every year, an estimated 10,000 children with thalassaemia are born worldwide," states Dr. Bulsara. "Around one million individuals are estimated to require blood transfusions each year. With these increasing numbers, India has unfortunately earned the title of the thalassaemia capital of the world."

Thalassaemia can lead to anaemia and chronic tiredness. Dr. Bulsara mentions that some children show signs and symptoms as early as six months of age. "These symptoms vary in severity, ranging from mild to life-threatening, and can include pale appearance, yellowish skin discolouration, a distended abdomen, irritability, fatigue, and failure to thrive," she adds.

According to Dr. Bulsara, regular blood transfusions play a vital role in managing the disease, particularly in individuals with beta thalassaemia, one of the most severe forms. "Without timely treatment, individuals with beta thalassaemia may succumb to severe anaemia during infancy or early childhood," she warns.

However, regular blood transfusions come with challenges. "Over time, these transfusions can lead to iron accumulation in the blood, which may damage the heart, liver, and other organs," Dr. Bulsara points out. She adds that alternative treatments, such as iron chelation therapy to remove excess iron and medications to stimulate red blood cell production, may also be considered.

"In addition to medical interventions, supportive care and lifestyle modifications are crucial for individuals with thalassaemia," stresses Dr. Bulsara. She highlights the importance of dietary adjustments to ensure adequate nutrition, regular monitoring of iron levels, and ongoing medical supervision to manage complications effectively.

Dr. Bulsara also points out the importance of prevention. "Before planning a pregnancy, it is essential for both partners to check their thalassaemia status," she advises. "Thalassaemia is a preventable genetic disorder, and early screening can help reduce its incidence."

The only definitive cure for thalassaemia, according to Dr. Bulsara, is a bone marrow transplant. However, she cautions that while medical advancements have improved disease management, thalassaemia remains a serious health concern with significant impacts on patients' lives.

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