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Importance of Screening for Rare Inherited Iron Metabolism Defects

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.

Although iron deficiency anemia is the most prevalent form of anemia globally, it may be underdiagnosed due to lack of awareness or methodical screening. Investigators who systematically evaluated anemia cases based on stringent clinical and laboratory criteria between 2019 to 2021 in the Indian subcontinent, which has an iron-deficient endemic population, have uncovered an inherited iron defect in 41% of cases, highlighting the need for active screening and awareness. Their findings appear in The Journal of Molecular Diagnostics, published by Elsevier.

Co-lead investigators Prateek Bhatia, MD, Amita Trehan, MD, and Pankaj Sharma, PhD, Pediatric Haematology Oncology Unit, Postgraduate Institute of Medical Education and Research, Chandigarh, India, explain, “Iron deficiency anemia affects 30-40% of children aged 2-5 years in India. With such high frequency, clinicians in outpatient departments, especially in peripheral healthcare facilities, end up prescribing oral iron to any child presenting with microcytic hypochromic anemia upfront without systematic evaluation of a basic iron profile. When the response to this treatment is suboptimal or absent, they are unsure how to proceed. In addition, they are puzzled when they encounter a case with anemia and abnormal iron profile suggestive of iron overload without secondary evidence of hemolytic disease or hemoglobinopathy on screening.”


https://www.jmdjournal.org/article/S1525-1578(24)00031-X/fulltext


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