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Study highlights 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. ....

Prateek Bhatia , Pankaj Sharma , Roberts Ohgami , Amita Trehan , Department Of Pathology , University Of Utah , Postgraduate Institute Of Medical Education , Washington University , Molecular Diagnostics , Pediatric Haematology Oncology Unit , Postgraduate Institute , Medical Education , Comprehensive Genomic Analysis Identifies , Diverse Landscape , Nonsideroblastic Iron Related Anemias , Pathogenic Variants , Iron Deficient Endemic Setting , Congenital Sideroblastic Anemias , Functional Profiling ,