Early diagnosis after birth leading to prompt treatment can greatly enhance the quality of life and lower mortality rates in individuals with sickle cell disease to under five percent, down from the previously reported 20-30 percent, as per an ICMR study.

A total of 63,536 newborns were tested during a five-year span from 2019 to 2024 as part of the Newborn Screening for Sickle Cell Disease study carried out by the National Institute of Immunohaematology in Mumbai, under the India Council of Medical Research (ICMR), across seven centers located in regions of India with high prevalence. The findings of the study have not been published yet.

The newborn screening program is designed to quickly identify whether a baby has Sickle Cell Disease (SCD), which is a serious inherited blood disorder, right after they are born.

If this disease isn’t caught early, it can lead to serious issues such as severe infections, anemia (low blood levels), and even strokes in infants.

Detecting the disease early can be a life saver, enabling doctors to initiate treatment before complications arise.

Babies diagnosed early can receive preventive antibiotics (like penicillin) to prevent infections and benefit from regular checkups and care from specialists.

Detecting issues early on is key for getting crucial vaccines that shield against serious diseases. Plus, it allows parents to learn the warning signs so they can respond swiftly. It also aids families and doctors in planning for long-term care, offers genetic counseling, and raises awareness, which can help lower future cases.

This kind of screening is particularly vital in tribal and high-risk regions of India, where many cases remain undiagnosed, resulting in early childhood fatalities. Screening can prevent a lot of these deaths.

In the study, they found that 7,275 babies (11.4 percent) were carriers of the sickle cell gene. This means they don’t have the disease but can transmit it to their offspring, Dr. Kedar explained, noting that 569 babies (0.9 percent) were diagnosed with SCD.

These little ones were monitored to confirm their diagnosis, and their parents received counseling about Sickle Cell Disease (SCD), including preventive steps to take to avoid complications, as well as information on prenatal diagnosis to prevent any future births of affected children in the family.

The babies received thorough care, which included penicillin prophylaxis, folic acid supplements, necessary vaccinations, and hydroxyurea therapy when needed. This led to a drop in mortality rates among these children to below 5 percent, down from the previously reported 20-30 percent.

This research indicates that newborn screening is effective and can save lives, particularly in areas with a high incidence, such as tribal regions, Dr. Kedar noted. The study was coordinated by Harpreet Kaur, a senior scientist at ICMR in Delhi. “By identifying Sickle Cell Disease early, infants can receive prompt care, enjoy healthier lives, and families can be better equipped”, Dr. Kedar added.

The seven centers involved in the study include the 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) in 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 in Bhubaneswar, and ICMR-Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Chandrapur.

Out of the 63,536 newborns tested, 57 percent were from tribal parents, while the remainder were from other backgrounds, Dr. Kedar reported.

The study also aimed to explore regional differences and the influence of genetic factors in sickle cell disease, as well as to identify challenges in implementing newborn screening.

DISCLAIMER: This article is derived from information available in the public domain. It’s always a good idea to check your doctor before beginning any new routine.

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