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Sep 11, 2024

'Thalassemia On Rise In India But We Can Reach A Plateau': Doctor Explains The Importance Of Pre-Marital Testing

'Thalassemia On Rise In India But We Can Reach A Plateau': Doctor (Image Credits: iStock)

Thalassemia, a genetic blood disorder, has become an increasing concern in India. Around one-sixth of the global thalassemia population resides in India. Thalassemia is a hereditary disorder that affects haemoglobin production, resulting in anaemia and other complications. But what is the cause behind this disorder? Who is at risk? To understand this condition, its prevalence, and how it affects families, we spoke exclusively with Dr Gaurav Kharya, Senior Consultant, Pediatric Hematology Oncology and Immunology at Indraprastha Apollo Hospitals.
According to Dr Kharya, the prevalence of thalassemia is on the rise worldwide, including in India. “Approximately 60,000 babies are born with thalassemia every year globally. In India alone, around 10,000 babies are born with the condition annually,” he explains. This means that India accounts for nearly one-sixth of the global thalassemia population.
Though the numbers are high, the country may be on the verge of controlling this rise, he shares. "We are probably in that phase where our increasing curve is settling down. With advancements in healthcare and early diagnosis, we will soon reach a plateau in the next 10 to 15 years," he says.
India's progress in healthcare has also led to significant improvements in diagnosing and treating thalassemia. Dr Kharya explains diagnostic facilities have become more accessible, and treatment options like bone marrow transplants offer hope for curative care. Early detection and treatment can make a critical difference, enabling patients to lead relatively normal lives.

Thalassemia Major Vs. Minor: If Both Partners Are Thalassemia Minor Are They Still At Risk?Thalassemia is classified into two main types: major and minor. Thalassemia major is the more severe form, requiring lifelong blood transfusions or a bone marrow transplant, while thalassemia minor generally has mild symptoms and does not require extensive treatment.
One important aspect of the disorder is its genetic nature. "If both parents have thalassemia minor, there is a 25 per cent chance in each pregnancy that the fetus will have thalassemia major, a 50 per cent chance of the child being a carrier (thalassemia minor), and a 25 per cent chance that the child will be normal and free from thalassemia," Dr Kharya explains.
He emphasizes that thalassemia can affect more than one child in a family. “It doesn’t mean that if the first child has thalassemia, others won’t. The genetic risk remains the same in every pregnancy.”

Why Should Couples Get Pre-Marital Screening

To curb the rising number of thalassemia cases, Dr Kharya advocates for pre-marital screening, particularly in high-risk communities. “It’s very important for couples to get tested for thalassemia before marriage, as this is the only way we can significantly reduce the incidence,” he says.
Certain communities in India, such as Agris, Lohanas, Sindhis, and Punjabis, have a higher carrier frequency of thalassemia. “In these high-risk populations, pre-marital screening is crucial. Identifying carriers early can prevent the birth of children with thalassemia major,” Dr Kharya adds.

Thalassemia and Pregnancy: What Are the Risks?

For women with thalassemia minor, the risk during pregnancy is generally low, but certain precautions must be taken. “Thalassemia minor women may have slightly lower haemoglobin levels, but the risk to the pregnancy is negligible,” Dr Kharya said. He notes that with proper care, women with thalassemia minor can have healthy pregnancies, though additional supportive care may be needed.

Early Signs of Thalassemia in ChildrenDetecting thalassemia early is essential for managing the condition effectively. According to Dr Kharya, most children with thalassemia major are diagnosed within the first year of life. “The early signs of thalassemia typically appear around six months of age. Parents may notice symptoms of anaemia, and the child may struggle to thrive. By the first year, 95 per cent of patients are diagnosed,” he explains.
Once diagnosed, treatment usually involves regular blood transfusions or, in some cases, a bone marrow transplant, which can be curative.

Mental Support to Families

Learning that a child has thalassemia can be emotionally overwhelming for families. Dr Kharya emphasizes the importance of mental support. “Parents need to be reassured that, with proper treatment such as blood transfusions or a bone marrow transplant, their child can lead a normal life,” he says.
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