India on Tuesday launched a low-cost, indigenously-manufactured Thalassemia and Sickle Cell diagnostic kit that will simplify the identification of 7 common beta-thalassemia mutations and two common abnormal haemoglobins, common in India. This kit is tailor made for Indian population can also be used for screening.

To be available at approximately Rs. 400 in the public health facilities up to district levels, the kit is expected to bring down the prices of such test in the open market where it costs up to Rs. 15,000. Even government institution like AIIMS provides this test at Rs. 4,000 at a highly subsidised price. As of now, India uses imported products for these tests.

The inherited haemoglobin disorders are the commonest single gene disorders in India, beta-thalassemia, Hb E-beta-thalassemia and sickle cell disease pose a huge health burden. The overall prevalence of beta-thalassemia carriers in India is 3-4 per cent, while in certain ethnic groups like Sindhis, Kutchi, Bhanushalis, Punjabis, Jains and Muslims it can vary from 5 to 15 per cent. It has been estimated that there would be 30 to 40 million carriers of beta-thalassemia in the country and 10,000 to 12,000 babies with major thalassemia syndrome along with over 5,000 babies with sickle cell disease are born each year. Close to 40 per cent of the tribal population in India has sickle cell disease.

Reverse Dot Blot Hybridization (RDB) Kit for thalassemia, launched by the Union Health and Family Welfare Minister Ghulam Nabi Azad, has been developed by scientists of National Institute of Immunohaematolgoy (NIIH) and the Indian Council for Medical research (ICMR) and is now being domestically manufactured by IMGENEX Ltd. The role of the molecular kit is to meet the need for affordable and sensitive tests for diagnosis of affected children and for prenatal diagnosis in the first trimester itself.

There are around 200 mutations described worldwide causing the beta-thalasemmia. However, each country has a small sub-set of 6-7 common mutations and a larger number of rarer ones. In India, 65 mutations have been characterised so far of which 7 common beta-thalassemia mutations are accounting for around 90 per cent of the molecular defects.

Thalassemia major children require blood transfusion every month from early childhood along with adequate iron. This costs around Rs. 1.5 lakh per year for management of each child. Sickle cell anaemia also causes considerable morbidity with repeated painful events which include pain in bones, joints, chest and other parts of the body. It can also cause complications like stroke and sudden death.

“The only way to avoid the birth of affected children with these inherited haemoglobin disorders is by increasing awareness in the population, screening for identification of carriers, genetic counselling and pre-natal diagnosis for prevention programmes,” V. M. Katoch, Director, ICMR said. Where the fetus has been detected for Thalassemia, termination can be an option, he explained since these disorders have no cure.

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