New Delhi, December 17
Scientists today launched the country’s first indigenous thalassaemia detection kit that will test an individual for all eight major thalassaemia mutations which account for 90 per cent of the molecular defects in Indians.

Set to cost Rs 400 against the imported technology that currently costs Rs 20,000 at private hospitals and Rs 4,000 at government-run tertiary facilities such as AIIMS in Delhi, the kit will predict six common beta thalassaemia mutations and two mutations that are identified with sickle cell disease.

The kit, developed by the Indian Council of Medical Research in association with the National Institute of Immunohaematology (NIIH), Mumbai, will help reduce the annual birth of nearly 12,000 babies with thalassaemia major syndrome that can only be cured by a bone-marrow transplant. Babies born with the syndrome require monthly blood transfusion and adequate iron intake that cost not less than Rs 1.5 lakh per year. Even then they do not live beyond 25 years on an average.

“The kit will offer prenatal diagnosis to couples at risk of severe haemoglobin disorders in the country. The only way to avoid the birth of affected children with inherited haemoglobin is by increasing awareness among people, screening for identification of carriers, genetic counselling and prenatal diagnoses for prevention programmes,” Dr Kunal Ghosh of the NIIH said today after Health Minister Ghulam Nabi Azad launched the kit as part of the government’s affordable medical technologies initiative.

“India has five million thalassaemia carriers and the carrier rate is 1 to 3 per cent. Nearly 15,000 babies are born with sickle cell disease in the country annually. Babies of couples who are thalassaemia gene carriers are most likely to be diagnosed with thalassaemia major. The new kit will enable screening of high-risk couples to know if they are carriers. The subsequent test will determine which thalassaemia-causing mutation they have.