Prenatal diagnosis key to preventing new cases of thalassemia: Experts

Encouraging blood donation and spreading awareness about prenatal diagnosis is necessary to prevent newer cases of thalassemia, say experts.

Thalassemia refers to a spectrum of genetic blood disorders, which involves the absence of or errors in genes responsible for production of haemoglobin -- a protein present in the red blood cells -- in the body.

People with thalassemia produce lesser amounts of healthy haemoglobin throughout their life, and their bone marrow could even stop producing healthy red blood cells at a certain point in time.

This leads to the presence of defective red blood cells (RBCs), which cannot absorb oxygen, leading to weakness, fatigue and anaemia.

"Contrary to existing myths in our society, thalassemia is never acquired from contact or from the environment. Thalassemia is inherited, meaning that at least one of your parents must be a carrier of the disease," Anil Kumar Dhar, Senior Consultant - Oncologist at Venkateshwar Hospital here, told IANS.

"Taking prenatal counselling and tests, which can help early detection, pregnant women and their partners can take informed decisions regarding their pregnancy," added Amitabha Ghosh of Columbia Asia Hospital, Gurugram. 

Globally, approximately 15 million people are diagnosed suffering from thalassemic disorders every year.

On an average, one out of every 25 Indians is a carrier of thalassemia, which is mainly of two types -- thalassemia major and thalassemia minor. 

Owing to ignorance and lack of proper awareness, many people in India do not opt for diagnosis on time and hence end up transferring faulty genes to their children, the experts rued.

"Both thalassemia major and minor can now be diagnosed as well as differentiated not only by conventional clinical methods and blood testing, but also with specialised molecular tests which permit accurate diagnosis, even before the baby is born," Ghosh said. 

"As per clinical evidences, if you or your partner carries the trait (alpha or beta) for thalassemia, there is a high risk that your baby may inherit the disease," he added. 

"Genetic studies have shown that even if only one parent has got the traits of thalassemia minor, there are up to 50 per cent chance of having a child with thalassemia minor," Dhar stated.

Again, if both parents are thalassemia minor carriers, the chance of having a child with thalassemia major can be as much as up to 25 per cent, he said.

"If you are already pregnant and both partners are having thalassemia minor, a prenatal diagnostic test is always recommended to find out whether the unborn baby has thalassaemia major," Ghosh said.

Babies should be tested at birth for such genetic problems, and all people (and not only mothers) planning to have a child must get tested to see if they carry thalassemia traits, experts suggested.