The kit will help to simplify the diagnosis of thalassemia in affected children and for prenatal diagnosis in the first trimester itself
The Union Minister for Health and Family Welfare, Ghulam Nabi Azad launched the Reverse Dot Blot Hybridization (RDB) Thalassemia diagnostic kit, developed by scientists of National Institute of Immunohaematolgoy (NIIH) and the Indian Council for Medical research (ICMR). It is now being domestically manufactured by IMGENEX. This kit has been developed to simplify the identification of seven common beta-thalassemia mutations and two common abnormal hemoglobins (Hb S and Hb E) which will cover most of mutations in hemoglobinopathies in India. 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.
Speaking at the launch function, Azad expressed satisfaction that the kit simplifies the identification of common mutations leading to formation of abnormal hemoglobins which cover around 90 per cent of all the defects seen in Beta-Thalassemia syndromes in India and thus is tailor made for the Indian population, and thus more effective. Since the cost of production of this kit is low, when it is marketed the kit will be cost effective. This kit thus makes India self reliant.
The newly launched diagnostic kit will cater to thalassemia and sickle cell anaemia, stated Dr VM Katoch, DG (ICMR). He stated that the screening needs to be coupled with counselling. The inherited hemoglobin 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 three to four 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 India and 10,000 to 12,000 babies with major thalassemia syndrome along with over 5000 babies with sickle cell disease are born each year.