Newborn screening, early treatment can cut sickle cell anaemia mortality: ICMR study
Post-birth diagnosis resulting in
early treatment
can substantially improve the quality of life and reduce mortality in patients with sickle cell disease to less than five per cent from the reported 20-30 per cent, according to an
ICMR study
.
As many as 63,536 newborns were tested over a five year period from 2019- 2024 as part of the study on
Newborn Screening
for Sickle cell Disease conducted by the National Institute of Immunohaematology in Mumbai under the India Council of Medical Research (ICMR) across seven centres in high prevalence areas of India.
The study is yet to be published.
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The newborn screening program helps find out if a baby is born with Sickle Cell Disease (SCD), a serious inherited blood disorder, soon after birth, explained Dr Manisha Madkaikar, Director of ICMR- Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur.
"If not detected early, this disease can cause life-threatening problems like severe infections, anaemia (low blood levels), and even strokes in infants," she stressed.
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"Finding the disease early can save lives by allowing doctors to start treatment before problems begin," Dr Prabhakar Kedar, Scientist F, ICMR-NIIH , who is the principal investigator of the study, said.
Babies diagnosed early can be given
preventive antibiotics
(like penicillin) to avoid infections and get regular checkups and care from specialists, Dr Madkaikar said.
Early detection also helps in getting important vaccines to protect against serious illnesses while parents can also be taught the signs of danger so they can act quickly.
It also helps families and doctors plan long-term treatment, provides genetic counselling to the family, and increases awareness, reducing the number of future cases, Dr Madkaikar explained.
This screening is especially important in tribal and high-risk areas of India, where many cases go undiagnosed, leading to early childhood deaths, Dr Kedar highlighted.
"With screening, many of these deaths can be prevented," he said.
During the study, 7,275 babies (11.4 per cent) were found to be carriers of the sickle cell gene. This means they don't have the disease but can pass it on to their children, Dr Kedar said, adding, 569 babies (0.9 per cent) were found to have SCD.
These babies were followed up for the confirmation of diagnosis, parents were counselled about SCD, preventive measures to be taken for or to avoid complications, and informed about prenatal diagnosis to avoid any further births of affected children in the family.
"The babies were given comprehensive care, including penicillin prophylaxis, folic acid supplementation, appropriate vaccinations and hydroxyurea therapy, as indicated. This resulted in reduction in mortality in these children to less than 5 per cent from the earlier reported mortality of 20-30 per cent," Dr Kedar said.
This study shows that newborn screening works and can save lives, especially in places with a high number of cases like tribal areas, Dr Kedar said.
This study was coordinated by Dr Harpreet Kaur, senior scientists at ICMR, Delhi.
"By detecting Sickle Cell Disease early, babies can get timely care, live healthier lives, and families can be better prepared," Dr Kedar said.
The seven centres which participated in the study are National Institute For Implementation Research on Non-Communicable Diseases in Jodhpur, Society for Education, Welfare and Action-Rural (SEWA -Rural) in Gujarat, the Nilgiris Adivasi Welfare Association (NAWA), Tamil Nadu, ICMR- National Institute for Research in Reproductive Health in Mumbai, ICMR-National Institute of Research in
Tribal Health
(NIRTH) in Jabalpur, ICMR-Regional Medical Research Centre, Bhubaneswar and ICMR- Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Chandrapur.
Of the total 63,536 newborns tested, 57 per cent belonged to tribal parents and rest from others, Dr Kedar informed.
The aim of the study was also to understand the regional variability and role of genetic modifiers in sickle cell disease as well as to identify barriers for newborn screening implementation, he explained.
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