Newborn screening programme for sickle cell reduced death rate to below 5 pc: ICMR-CRMCH

A five-year ICMR study found newborn screening for sickle cell disease drastically reduced mortality rates. Early intervention with penicillin, vaccines, and hydroxyurea therapy improved outcomes significantly. The program tested over 63,000 newborns, with tribal communities accounting for 57% of cases. Experts recommend expanding screening in high-prevalence regions to curb SCD-related deaths.

"Newborn screening has significantly brought down mortality risk from 20-30% to less than 5%" – Dr. Manisha Madkaikar, ICMR-CRMCH.

Newborn screening programme for sickle cell disease (SCD), undertaken between 2019-2024, reduced mortality risk to below 5 per cent from the earlier 20 to 30 per cent, said Dr. Manisha Madkaikar, Director of ICMR- Centre for Research Management and Control of Haemoglobinopathies (CRHCM) in Nagpur.

Key Points

1 Early diagnosis via newborn screening improves sickle cell outcomes

2 Comprehensive care includes penicillin, vaccines, and hydroxyurea therapy

3 Study tested 63,536 newborns, identifying 546 SCD cases

4 Tribal populations showed higher SCD prevalence at 57%

Speaking to IANS, Madkaikar explained how the Newborn Screening Programme 2019-2024 found that an early diagnosis can significantly boost the outcomes of the chronic, single-gene disorder.

SCD is a chronic, single-gene disorder that causes a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction, and chronic organ damage, significantly reducing life expectancy.

The genetic blood disorder affects the entire life of the patient, as it leads to various severe health complications.

“Newborn screening programme is recommended for sickle cell disease because as early you diagnose the sickle cell disease, you can initiate comprehensive care in the form of penicillin prophylaxis, some vitamins, appropriate vaccination, and then hydroxyurea therapy,” Madkaikar told IANS.

“Our newborn screening has shown that comprehensive care could be given early to patients, it has significantly brought down the mortality which was earlier mortality rate was reported to be around 20 to 30 per cent, this has brought down the mortality risk less than 5 per cent,” she added.

In a study, conducted by the ICMR-National Institute of Immunohaematology (NIIH) in Mumbai, about 63,536 newborns were tested for a period of five years.

Of the total newborns tested, 57 per cent belonged to tribal parents, while 43 per cent were from non-tribals.

The yet-to-be-published study identified 546 cases of sickle cell disease.

The study was led across seven centres in high prevalence areas of India, namely Udaipur (Rajasthan), Bharuch (Gujarat), Palghar, Chandrapur and Ghadchiroli (Maharashtra), Mandla and Dhindori (Madhya Pradesh), Nabrangpur and Kandhamal (Odisha), and the Nilgiris (Tamil Nadu).

Centres in Gujarat reported the highest number of SCD cases (134), followed by Maharashtra (127), Odisha (126). Other centres with SCD cases include Madhya Pradesh (97), Rajasthan (41), and Tamil Nadu (21). Mortality due to SCD was identified in 22 cases (4.15 per cent), revealed the study.

“The study showed that early intervention definitely helps, it also helps in cascade screening as you identify one baby with the sickle cell disease, you counsel the family, you test the family members, and it helps in further diagnosis of existing patients as well as prevention of further birth of further the disease. So, newborn screening activity must be done for all the newborns in sickle cell prevalent areas,” Madkaikar told IANS.

https://www.newkerala.com/news/o/newborn-screening-programme-sickle-cell-reduced-death-rate-below-272