Made-in-India diagnostic kit for thalassemia and sickle cell disease launched

Kit developed keeping in mind gene mutations specific to ethnic groups in India, says National Institute of Immunohaematology

By Jyotsna Singh
Published: Wednesday 18 December 2013

The government on Tuesday launched a diagnostic-kit to detect genetic disorders thalassemia and sickle cell disease in unborn children. The kit has been developed by the National Institute of Immunohaematology in Mumbai, an institute under the Indian Council of Medical Research. The kit makes  diagnosis inexpensive, and has been developed keeping in mind gene mutations specific to ethnic groups in India. Other South Asian countries like Bangladesh, Pakistan, Sri Lanka and Maldives, where similar gene mutations are common, will also benefit from this breakthrough.

Thalassemia and sickle cell disease are genetic blood disorders that make normal life difficult. Thalassemia is caused by variant or missing genes that affect how the body makes haemoglobin. Patients suffering from these diseases need regular blood transfusions, almost every month. In the case of Thalassemia, if only one of the parents is a carrier of the disease, then the child will be safe. However, if both the parents are carriers, then the possibility of the child being thalassemia major—not only being the carrier but being affected by the disease—is 50 per cent. Once the foetus is diagnosed as being affected by the disease using the kit, doctors can counsel parents. The diagnosis can be made before the tenth week of pregnancy.

“So far we were importing kits for diagnosis from other countries. They were not very successful on Indian population. We checked the indigenously prepared diagnostic kit in 15 centres across the country and found it to be 90-95 per cent effective. One needs only a PCR machine to carry out the test,” said V M Katoch, director, ICMR. PCR or polymerase chain reaction machine is used to analyse genes, phylogeny (studying evolutionary relationships between organisms) and detecting/diagnosing diseases.

The production cost of the kit is Rs 400. The total amount required for a child will be diagnosed is Rs 1,500, if one factors in cost of setting up a PCR machine and personnel conducting the test.

“If we can scale up the production by making wide use of the kit, the final cost may come down substantially,” said  Kanjaksha Ghosh, director of NII.

The imported device did not suit Indian population because of differences in gene mutations. What's more, the cost of diagnosis was high, varying from Rs 4,000 in government hospitals to Rs 15,000 in private hospitals.

Nearly 10,000 to 12,000 babies are born in India every year who are thalassemia major. As many as 65 gene mutations in India. However some communities have high rates of thalassemia—Sindhi community has 15 per cent rate compared to 3 to 4 per cent of the Indian population on average. Other communities with high rates of the disease are Kutchi Bhanushalis, Punjabis, and Jains. The kit has six probes (vials containing testing chemicals) to check six gene mutations.

“These six mutations cover 90 per cent of the affected population,” said Ghosh. The kit has two more probes for checking sickle cell.

Prevalence of β-thalassemia and other haemoglobinopathies in six cities in India: a multicentre study

Past, present & future scenario of thalassaemic care & control in India

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