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Scientists call for more screening, awareness on inherited defects in anaemic patients in India

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. ....

New Delhi , Amita Trehan , Pankaj Sharma , Prateek Bhatia , Postgraduate Institute Of Medical Education , Postgraduate Institute , Medical Education , Pediatric Haematology Oncology Unit ,

Inherited Iron Metabolism Defects Unveiled in Indian Anaemic Patients

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. ....

Pankaj Sharma , Prateek Bhatia , Amita Trehan , Postgraduate Institute Of Medical Education , Postgraduate Institute , Medical Education , Pediatric Haematology Oncology Unit ,

Research Stresses Need for Rare Iron Metabolism Defect Screening

Research Stresses Need for Rare Iron Metabolism Defect Screening
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United States , Amita Trehan , Prateek Bhatia , Pankaj Sharma , Roberts Ohgami , Washington University , University Of Utah , Postgraduate Institute Of Medical Education , Department Of Pathology , Molecular Diagnostics , Pediatric Haematology Oncology Unit , Postgraduate Institute , Medical Education ,

Inherited iron defects uncovered in endemic Indian population

Although iron deficiency anemia is the most prevalent form of anemia globally, it may be underdiagnosed due to lack of awareness or methodical screening. ....

Roberts Ohgami , Pankaj Sharma , Amita Trehan , Prateek Bhatia , Washington University , Postgraduate Institute Of Medical Education , University Of Utah , Department Of Pathology , Molecular Diagnostics , Pediatric Haematology Oncology Unit , Postgraduate Institute , Medical Education ,

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 ,