The Indian Council of Medical Research (ICMR) on 17 December 2013 unveiled the first indigenously developed thalassaemia and sickle cell anaemia testing kit. The testing kit was developed by the National Institute of Immuno Haematology (NIIH) in Mumbai. The testing kit is a polymerase chain reaction (PCR) based test that screens for eight genetic mutations, six of which can cause thalassaemia and two sickle cell anaemia.
The kit would bring down the cost of screening for both the genetic diseases to a tenth of present cost of Rs.15,000 to Rs. 20,000, which is being charged in the private sector. The test costs Rs. 4,000 at All India Institute of Medical Sciences (AIIMS).The testing kit would be of immense help for premarital and post-pregnancy counselling. This is because two carriers of a defective gene have a 25 per cent chance of having a baby born with thalassaemia.
There are 3-4% (30-40 million) beta thalassaemia carriers in India and 10000-12000 thalassaemic babies are born every year and 5000 with sickle cell anaemia. The prevalence is between 5 and 15 per cent among Sindhis, Kutchis, Punjabis, Bhanushalis, Jains and Muslims.
Scientists who developed the kit, meanwhile, rued the fact that a PCR machine — which costs about Rs 1 lakh — was available in only 10 per cent of medical colleges.
Source: The Hindu