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This is an archive article published on December 18, 2013

ICMR unveils first indigenous thalassaemia testing kit

There are 3-4 per cent 30-40 million beta thalassaemia carriers in India.

The Indian Council of Medical Research ICMR on Tuesday unveiled an indigenous thalassaemia and sickle cell anaemia testing kit developed by the National Institute of Immunohaematology in Mumbai. The kit is expected to bring down the cost of screening for both the genetic diseases to a tenth of the Rs 15,000-Rs 20,000 in the private sector. The test costs Rs 4,000 in AIIMS.

The screening is particularly important for premarital and post-pregnancy counselling. Two carriers of a defective gene have a 25 per cent chance of having a baby born with thalassaemia. Premarital counselling can prevent such unions or raise the red flag well in time for the couple to be extra cautious during a pregnancy.

There are 3-4 per cent 30-40 million beta thalassaemia carriers in India and 10,000-12,000 thalassaemic babies are born every year and 5,000 with sickle cell anaemia. The prevalence is between 5 and 15 per cent among Sindhis,Kutchis,Punjabis,Bhanushalis,Jains and Muslims.

This is a polymerase chain reaction-based test that screens for eight genetic mutations,six of which can cause thalassaemia and two sickle cell anaemia. The cost of production is Rs 500. Screening for these mutations will help us prevent 90-95 per cent cases, said V M Katoch,secretary health research and director general ICMR.

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. They said gynaecologists often did not prescribe the test for pregnant women,unmindful that the cost of treating an ailing child is about Rs 1.5 lakh per year. Most such children do not survive beyond their 25th year.

 

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