The Union Minister for Health and Family Welfare, Shri Ghulam Nabi Azad launched the Reverse Dot Blot Hybridization (RDB) Thalassemia diagnostic kit, here today.
Reverse Dot Blot Hybridization (RDB) Kit for thalassemia is 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.
Speaking at the launch function, Shri Azad expressed satisfaction that the kit simplifies the identification of common mutations leading to formation of abnormalhemo-globins which cover around 90% of all the defects seen in Beta- Thalassemiasyndromes 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 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 stated that infrastructure needs to be supported and strengthened by human resources. He said that the number of MBBS seats have increased 55 times whereas the MD seats have seen growth by 75 times. This change shall lead to visible benefits in the coming years, the Minister stated.
Shri Azad also pointed out that in some time there shall be more than 70 cancerinstitutes 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.
The newly launched diagnostic kit will cater to thalassemia and sickle cell anaemia, stated Dr. V M 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 3-4%, while in certain ethnic groups like Sindhis, Kutchi Bhanushalis, Punjabis, Jainsand Muslims it can vary from 5 to 15%. 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 majorthalassemia syndrome along with over 5000 babies with sickle cell disease are born each year.
There are around 200 mutations described worldwide causing the beta-thalassemias. 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% of the molecular defects.
The scientists of the National Institute of Immunohaematolgoy (NIIH) at Mumbai one of the premier institutes of ICMR have developed a precion technology thalassemiadetection kit which has tremendous potential in offering prenatal diagnosis to majority of the couples at-risk of a severe hemoglobin disorders in the country.
This Institute has been developing different programmes on Thalassemias and sickle cell disorders since early 1980s. It has screened many population groups for beta-thalassemia and sickle cell anemia and established first trimester prenatal diagnosis forhemoglobinopathies by DNA analysis using reverse dot blot (RDB) hybridization, ARMS and DNA sequencing. NIIH has also studied the distribution of beta-thalassemiamutations in the country to develop a cost-effective strategy for their identification for prenatal diagnosis.
This kit has been developed to simplify the identification of 7 common beta-thalassemia mutations and two common abnormal hemoglobins (Hb S and Hb E) which will cover most of mutations in hemoglobinopathies in India.
