‘Thalassemia is on the rise in India, but we may reach a plateau’: Doctor explains the importance of premarital testing

ThalassemiaThalassemia, a genetic blood disorder, has become a growing concern in India. Around one-sixth of the world’s population with thalassemia resides in India. Thalassemia is an inherited disorder that affects the production of haemoglobin, leading to anaemia and other complications. But what causes this disorder? Who is at risk? To understand this condition, its prevalence and how it affects families, we spoke exclusively to Dr Gaurav Kharya, Senior Consultant, Paediatric Haematology, Oncology and Immunology at Indraprastha Apollo Hospitals.

According to Dr Kharya, the prevalence of thalassemia is increasing worldwide, including in India. “Approximately 60,000 babies are born with thalassemia every year worldwide. In India alone, around 10,000 babies are born with this condition every year,” he explains. This means that India accounts for almost one-sixth of the world’s thalassemia population.

Although the numbers are high, the country may be on the verge of controlling this increase, he says. “We are probably at that phase where our upward curve is levelling off. With advances in medical care 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 the diagnosis and treatment of thalassemia. Dr Kharya explains that diagnostic centres have become more accessible and treatment options such as bone marrow transplants offer hope for a cure. Early detection and treatment can make a decisive difference, allowing 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 most severe form and requires lifelong blood transfusions or a bone marrow transplant, while thalassemia minor usually has mild symptoms and does not require extensive treatment.

An important aspect of the disease is its genetic nature. “If both parents have thalassemia minor, there is a 25 percent chance in each pregnancy that the fetus will have thalassemia major, a 50 percent chance that the child will be a carrier (thalassemia minor) and a 25 percent chance that the child will be normal and not have thalassemia,” explains Dr. Kharya.

She points out that thalassemia can affect more than one child in a family. “This does not mean that if the first child has thalassemia, the others will not have it. The genetic risk is the same in each pregnancy.”

Why should couples do premarital testing?

To curb the rising number of thalassemia cases, Dr Kharya advocates premarital screening, particularly in high-risk communities. “It is very important for couples to get screened for thalassemia before marriage as this is the only way to significantly reduce the incidence,” he says.

In some communities in India, such as the Agris, Lohanas, Sindhis and Punjabis, the frequency of thalassemia carriers is higher. “In these high-risk populations, premarital screening is crucial. Early identification of carriers can prevent the birth of children with thalassemia major,” adds Dr. Kharya.

Thalassemia and pregnancy: what are the risks?

For women with thalassemia minor, the risk during pregnancy is generally low, but certain precautions should be taken. “Women with thalassemia minor may have slightly lower hemoglobin levels, but the risk to the pregnancy is negligible,” said Dr. Kharya. He notes that with proper care, women with thalassemia minor can have healthy pregnancies, although they may need additional supportive care.

Early signs of thalassemia in childrenEarly detection of thalassemia is essential to effectively manage the disease. According to Dr. Kharya, most children with thalassemia major are diagnosed during the first year of life. “The first signs of thalassemia usually appear around six months of age. Parents may notice symptoms of anemia and the child may have difficulty growing. By the first year of age, 95 percent 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 for families

Learning that a child has thalassemia can be emotionally overwhelming for families. Dr. Kharya emphasizes the importance of psychological 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.