Inherited blood disorders common in young children, study suggests
Mumbai: Diagnostic laboratory chain Metropolis Healthcare has released findings from a three-year study (2021–2024) that screened nearly 20,000 children under the age of 12 who were clinically suspected of having
hemoglobinopathies
—genetic disorders that affect red blood cells.
The study reveals that 28.4 per cent of the children tested were affected.
Among the identified cases, the most common conditions were the
beta-thalassemia
trait (38.7 per cent) and
sickle cell disease
or trait (30 per cent).
Notably, over half of the affected children were under the age of three, underscoring the need to integrate prenatal testing, early screening, and
genetic counseling
into routine maternal and
child healthcare
.
The study also highlights regional disparities in prevalence. The North-East recorded the highest positivity rate at 48.44 per cent, with a significant presence of Hemoglobin E.
Central India showed a higher burden of sickle cell disease at 37.36 per cent, while South India reported an overall prevalence of 34.09 per cent. Beta-thalassemia trait was found to be widely prevalent in Northern and Western India.
An earlier pan-India study by Metropolis, which analysed 65,779 cases, further reinforced the importance of
molecular testing
in diagnosing
hemoglobinopathies
.
According to the company, advanced tools like
Next-generation sequencing
(NGS) can analyze key genes—HBB, HBA1, and HBA2—in greater detail, detecting genetic mutations that traditional testing may overlook.
This facilitates accurate diagnosis, identification of carriers, and enables a more personalized approach to disease management.
Metropolis states that the high sensitivity and precision of NGS make it especially suitable for large-scale screening programs, aiding improved clinical decision-making in managing thalassemia and related disorders.
Dr. Smita Sudke, Chief of Laboratory, Pune & Rest of Maharashtra, Metropolis Healthcare, and the lead author of the study, said, 'By incorporating advanced molecular diagnostic tools such as Sanger sequencing, Gap-PCR, and Next-generation sequencing (NGS), we can ensure timely diagnosis, empower reproductive planning, and ease the long-term health and economic burdens on families and the healthcare system.'
Dr. Kirti Chadha, Chief Scientific and Innovation Officer at Metropolis Healthcare Limited, added, 'Molecular testing is pivotal in diagnosing and managing complex blood disorders, particularly beta-thalassemia major and sickle cell disease.
It helps decode unexplained symptoms such as anemia or microcytosis and enables early detection—even before symptoms appear—making it indispensable for prenatal and newborn screening.'
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