Although iron deficiency anemia is the most prevalent form of anemia globally, it may be underdiagnosed due to lack of awareness or methodical screening.
May 20 2024Elsevier 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.
Investigators systematically evaluated close to 300 anemia cases from 2019 to 2021. Following stringent and structured case selection criteria, the researchers excluded patients diagnosed with common conditions of iron deficiency, hemoglobinopathy, inflammation, celiac disease or chronic bleeding from the study. This process resulted in a cohort of 41 cases of suspected sideroblastic or nonsideroblastic iron defects.
Investigators were surprised to find many of the rare sideroblastic gene defects in the cohort presenting either in late childhood or adulthood or being undiagnosed. They were also surprised to find a different novel yet recurrent mutation in SLC25A38 gene in unrelated patients from the northern part of the country, suggesting an ethnically diverse population in the subcontinent.
Anemia Blood Children Chronic Diagnostics Education Gene Genetic Genomic Haematology Healthcare Hemoglobinopathy Iron Deficiency Laboratory Molecular Diagnostics Oncology Research
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