09.04.2024 | Scientific Letter
Coexistence of Severe Iron Deficiency Anemia in Adolescent Girls with Exonic Variants Linked to Membranopathies
verfasst von:
Subrahamanyam Dantham, Indraja Gaddam
Erschienen in:
Indian Journal of Pediatrics
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Excerpt
To the Editor: Iron deficiency remains a major contributor to anemia in Indian children and adolescents. Despite iron supplementation, many with iron deficiency anemia (IDA) show limited improvement [
1,
2]. This suggests that IDA may be compounded by other factors, possibly mutation in genes related to erythrocyte structure and function [
3]. Most of these coding (exonic) variants are dominant, causing moderate to severe phenotypes with varying degrees of hemolytic episodes when triggered by external factors, further exacerbating the existing nutritional deficiency [
4]. …
