Severe Iron Deficiency Anemia in Adolescent Girls may have a Link with Membranopathies

Iron deficiency anemia (IDA) remains a significant health concern among Indian children and adolescents despite constant efforts to address it through iron supplementation. This persistence suggests the involvement of complex factors, potentially including genetic influences, worsening the nutritional deficiency.

A recent investigation into the genetic aspects of IDA among a cohort of twenty adolescent girls with severe IDA offers valuable insights. Within this group, six individuals showed coding sequence variations in genes responsible for maintaining the structure and function of erythrocyte membranes, collectively referred to as membranopathies. Notably, some of these variants were identified for the first time. These genetic aberrations can potentially compromise the integrity of erythrocyte membranes, thereby precipitating anemia through hemolysis, which is a characteristic hallmark of membranopathies.

These findings show the association of genetic predispositions and environmental factors in the pathogenesis of IDA. Moreover, they highlight the importance of comprehensive approaches to address this health challenge, including nutritional interventions and genetic considerations.

It is crucial to consider genetic screening initiatives, particularly within populations with IDA. Early identification of genetic susceptibilities will help take proactive measures to prevent or manage anemia, thereby advancing public health efforts to reduce the burden of this condition among Indian youth.

Dantham S, Gaddam I. Coexistence of Severe Iron Deficiency Anemia in Adolescent Girls with Exonic Variants Linked to Membranopathies. Indian J Pediatr. 2024; 91:641. https://doi.org/10.1007/s12098-024-05117-x