Why detecting Thalassemia at an early stage is important

Thalassemia is an inherited blood disorder caused by abnormal haemoglobin production. Sickle cell disease is another such disorder. They fall under the broader category of haemoglobinopathies. Though these disorders are preventable, the chronic stage could lead to life-threatening diseases. Since only a limited number of patients can be treated with available options, early detection is the best bet. Every year some 10,000 children are born with thalassemia in the country. Some 20 million people in India are silent carriers of the beta thalassemia gene. Thalassemia Awareness Day is observed on May 8. 

Interview: Dr Bhavya Saxena, Consultant Pathologist, Global Reference Laboratory, Metropolis Healthcare Limited

Q: What is thalassemia? 

Abnormal haemoglobin production leads to excessive destruction of red blood cells (RBCs). There are three main types (alpha, beta, and minor) with four subtypes each. 

Q: What are the common symptoms? 

They vary depending on whether a person carries the abnormal gene or has the disease itself. Carriers have both normal and abnormal haemoglobin genes. Common symptoms are fatigue, pale or yellowish skin, dark urine, abdominal swelling, stunted growth in children, or facial bone deformities.

Q: Why should India be concerned? 

India has the world’s largest number of children with thalassemia, and approximately one lakh adults are affected as well. The disease can have lifelong effects and be fatal in severe cases. 

Q: How is early diagnosis made? 

Diagnosis typically involves complete blood counts (CBC) and peripheral smear analysis (examination of red and white blood cells and platelets). Unusual findings prompt further tests, such as Hb studies and iron tests. Including Hb studies in antenatal blood testing can enhance early detection. DNA studies confirm the disease by identifying the mutant gene in the haemoglobin.

Q: Is prenatal testing available for everyone? 

Prenatal testing is available for at-risk parents. Invasive procedures like chorionic villus sampling (CVS) or amniocentesis are conducted around the 11th to 16th week of pregnancy. These molecular tests target beta-thalassemia mutations and alpha-thalassemia deletions.

Q: What are some of the strategies to facilitate early diagnosis and reduce the disease burden? 

The World Health Organisation has recommended community and school awareness, encouragement of screening of those who are at high risk or have a family history; accessible diagnostic facilities; and extended family screening programs. In addition, it recommends genetic counselling to couples, particularly before marriage and conception, to prevent unions between carriers. This valuable information about inheritance patterns, risks, and reproductive options empowers couples to make informed decisions about reducing the likelihood of passing thalassemia to their children.

Q: Why is early detection crucial? 

Early detection allows families to make informed decisions and facilitates prompt treatment initiation. This can significantly improve symptoms, prevent complications, and enhance the quality of life for affected individuals. By prioritizing early diagnosis and intervention, healthcare systems can effectively manage thalassemia and reduce its economic and social burden.