Genetic make-up programme for thalassaemia major patients in Pune

In an attempt to understand the mutations in thalassaemia major patients, Ruby Hall Clinic and University of Pune’s (UoP) School of Health Sciences has planned to come up with a genetic make-up programme.

Under this programme, patients will undergo a special test that will determine the mutations in their genes.

The programme will begin on UoP premises within the next two to three months. Already, four patients have registered themselves under this programme, in which polymerase chain reaction (PCR) blood tests would be carried out on the patients.

The haematologist of Ruby Hall Clinic and the coordinator of the programme, Dr Vijay Ramanan, told DNA that the aim is to find out the mutations in the genetic make-up of the beta thalassaemia major (BTM) patients in the western India.

There are 150 mutations in BTM of which India has seen 23 so far. Of  these 23, six mutations are very common and we plan to find out other mutations, he added.

“This will not only help us to maintain a database of the patients but will help the patients as well. We will be able to find out the mutations and the genetic make-up in the second child when it is still a foetus. A test will be done to find out the mutations in the pregnant mother in case her first child is affected by thalassaemia major. This will help the mother to abort the foetus and curb the thalassaemia major patient to come into existence,” he said.

“The tests will also help us to determine the kind of specific treatments and number of blood transfusions for the patients,” he said.