DNA: Awareness brings thalassaemia back in focus: January 20, 2009

 

The recent news about the Toto tribe being on the verge of extinction; with most of the unmarried Totos having thalassaemia has brought people’s attention to this dreaded genetic defect. This disease seen in a child when both his parents are carriers of the defect, can be life threatening. The carrier is called a thalassaemia minor while the affected is a thalassaemia major. There are 40 million people in India who are thalassaemia minors.

 

The major challenge this disease faces is that it most often goes undetected as carriers show no symptoms of the disease. If the marriage between two thalassaemic carriers takes place, then there is a 25 per cent chance that the child will be a thalassaemia major.

The number of cases of thalassaemia and the number of people coming in for blood transfusions has increased in the last couple of years but most doctors believe that the reason for this is increased awareness. Dr. S. Kondekar, pediatrician KEM Hospital says, “I would estimate about a 20 per cent rise in thalassaemia major cases. Currently we manage about 200 to 250 cases of transfusion per month and we get about three to four new cases every month.”

Thalassemia is a defect whose occurrence can be prevented if the two carriers are prevented from having a child. But even today not many people get the thalassaemia test done before planning a pregnancy, feels gynaecologist Dr. Duru Shah. “I advice most people to get a thalassaemia screening done, but not everyone agrees,” says Shah. She feels that not many people know about the defect and only a few people who have read about it get the test done. She adds that another problem is the test being expensive.

The occurrence of this defect is seen more in certain communities like the Kutchis, Lohanas and Sindhis. Dr. Avinash Deo, hematologist, Hiranandani Hospital feels that the awareness among these high risk groups has increased. “People of these communities are getting the tests done a lot more as compared to other communities,” he says.

Some NGOs are organising regular thalassaemia tests in different places like colleges, corporate offices etc. Think Foundation, an NGO in Mumbai is working for the cause of thalassaemia prevention for the last three years. They organise regular blood donation camps for the thalassaemia patients and even inter-collegiate blood donation competitions. “We organise about 400 blood donation drives in a year. This year we have convinced colleges and corporates to undertake two drives in the year as against one,” says Vinay Shetty, vice president, Think Foundation.

It has also started setting up day care centres in different locations where the child can receive transfusion. One of their important activity is conducting thalassaemia tests at every blood donation drive. This also gives people the provision of getting the test done without donating blood. “This year about 40,000 people have been tested,” says Shetty.

URL: http://www.dnaindia.com/report.asp?newsid=1223061