New Delhi: The Union Minister for Health and Family Welfare, Ghulam Nabi Azad launched the Reverse Dot Blot Hybridization (RDB) Thalassemia diagnostic kit here on Tuesday.
The RDB Kit for thalassemia is developed by scientists of National Institute of Immunohaematology (NIIH) and the Indian Council of 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.
The kit has been developed to simplify the identification of 7 common beta-thalassemia mutations and two common abnormal haemoglobins (Hb S and Hb E), which will cover most of mutations in haemoglobinopathies in India, according to a health ministry statement.
Speaking at the launch function, Azad expressed satisfaction that the kit simplifies the identification of common mutations leading to formation of abnormal haemoglobins 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,” he said.
The newly launched diagnostic kit will cater to thalassemia and sickle cell anaemia, said Dr V M Katoch, Director General, Indian Council of Medial Research (ICMR). He said the screening needs to be coupled with counselling.
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 India 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.
There are around 200 mutations described worldwide causing the beta-thalassemia. However, each country has a small subset of 6-7 common mutations and a larger number of rarer ones. In India, 65 mutations have been characterized so far of which 7 common beta-thalassemia mutations are accounting for around 90 per cent of the molecular defects.
The scientists of the National Institute of Immunohaematology (NIIH), Mumbai — one of the premier institutes of ICMR — have developed a precision technology thalassemia detection kit which has tremendous potential in offering prenatal diagnosis to majority of the couples at-risk of a severe haemoglobin disorders in the country.
The NIIH has been developing different programmes on Thalassemia and sickle cell disorders since early 1980s. It has screened many population groups for beta-thalassemia and sickle cell anaemia and established first trimester prenatal diagnosis for haemoglobinopathies by DNA analysis using reverse dot blot (RDB) hybridization, ARMS and DNA sequencing.
The institute has also studied the distribution of beta-thalassemia mutations in the country to develop a cost-effective strategy for their identification for prenatal diagnosis.
The health minister stated that he is satisfied that the health ministry has been able to achieve several significant milestones in the past years which includes providing infrastructure and human resources to the health services in the country. He said the infrastructure needs to be supported and strengthened by human resources.
He said the number of MBBS seats has increased 55 times whereas the MD seats have seen a growth by 75 times. This change shall lead to visible benefits in the coming years, the minister stated.
Azad also pointed out that in some time there shall be more than 70 cancer institutes throughout the country, with one at the national level, 50 at the state level whereas 70 institutes would come up at regional level. Infrastructure has been added to AIIMS Delhi and six new AIIMS have been set up. Expansion works have been taken up at Safdarjung, RML and Lady Harding hospitals, he stated. In addition to this, the Urban Health Mission has been launched.
Also present at the launch function were A H Khan Chowdhury, minister of state for health and family welfare; K Desiraju, secretary (health), N Sanyal, secretary (ayush), Dr M C Misra, director, AIIMS, New Delhi, Dr Jagdish Prasad, director general, CGHS, other senior officers of the ministry of health and family welfare and scientists.