Every year, an estimated 10,000 children are born with Thalassemia major, a genetic blood disorder, in India.
Awareness and a simple blood test during early pregnancy, which can determine the likelihood of a child having the condition, if both parents are carriers of thalassemia, can prevent new births of affected children as it requires regular blood transfusions to stay alive, with Bone Marrow Transplantation (BMT) being the curative option, according to doctors.
Thalassemia major is a genetic condition that results in reduced capacity of the blood to generate adequate red blood cells, resulting in severe anaemia. Noting that prevention is key for a thalassemia-free India, Revathi Raj, paediatric haematologist and BMT physician, Apollo Cancer Centre and president of Thalassemia Welfare Association (TWA), said Thalassemia carriers will have no symptoms and when both partners are carriers, there is a 25% likelihood of their child having Thalassemia major.
“A child is diagnosed with thalassemia three to four months after birth, when symptoms such as turning pale, abdominal swelling and yellowish eyes appear. It requires blood transfusions every month. Blood transfusions will increase the iron load in the body for which they need to undergo chelation,” she told reporters after an awareness event, organised by TWA in line with the World Thalassemia Day on Wednesday.
“Through haemoglobin test (normal level being 12 gm), we can differentiate between iron deficiency anaemia and thalassemia carrier,” she added. States such as Punjab, Rajasthan and West Bengal had several cases of Thalassemia, while it was prevalent in pockets in Tamil Nadu such as Dharmapuri, she said.
S. Suresh, honorary secretary, Voluntary Health Services, highlighted the need for testing at 12 weeks of pregnancy. Prenatal diagnosis costs around ₹20,000 to ₹25,000.
Talking about BMT as a curative option, Dr. Revathi Raj said that TWA was set up in 2006, and of the 480 registered patients, more than 300 have undergone BMT.
With challenges at every step and families facing a number of struggles, she said patients needed donors for blood transfusion and assistance for chelation therapy. She appealed to school teachers, college faculty and employers to understand the needs of persons with thalassemia who usually seek a day’s leave every month for undergoing blood transfusion.
Taking part in the event, actor Suhasini Maniratnam raised the need for awareness and testing during early pregnancy. She also urged people to come forward and donate blood to help patients with thalassemia. There was also an appeal to the government to bring in a policy decision on testing during early pregnancy. An interactive discussion between experts, parents and patients was held on the occasion.
