First indigenous Thalassaemia testing kit unveiled by ICMR in association with NIIH

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 the 15000 rupees to 20000 rupees in the private sector. The test costs 4000 rupees in 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.

About Thalassaemia
Thalassaemia is a group of inherited blood disorders that affect the body’s ability to create red blood cells. In case of thalassaemia bone marrow does not produce the haemoglobin causing anaemia and reducing the oxygen carrying capacity.
There are two types of thalassaemia that is alpha thalassaemia and beta thalassaemia.

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