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