A study by scientists in India has highlighted inherited defects in anaemic patients in India. For the study, the researchers shortlisted nearly 300 anaemia cases from 2019 to 2022 after an initial screening. After excluding patients diagnosed with conditions such as inflammation and chronic bleeding, the team included 41 cases of suspected iron metabolism defects in their analysis.
Researchers from PGIMER, Chandigarh, have discovered inherited iron metabolism defects in anaemic patients in India, highlighting the need for active screening and awareness. This study underlines the importance of identifying at-risk populations and developing new treatment strategies to reduce the burden of these rare diseases.
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Although iron deficiency anemia is the most prevalent form of anemia globally, it may be underdiagnosed due to lack of awareness or methodical screening.
Over 40% of cases curated based on stringent clinical and laboratory criteria from the Indian subcontinent have an inherited iron metabolism defect on comprehensive genomic evaluation, report investigators in The Journal of Molecular Diagnostics.