Iron deficiency anemia in pregnant women and women of reproductive age: The role of genetic factors

Irina Ismailova

2025

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DOI 10.54500/2790-1203-2025-2-125-63-68
Data confidence 70 medium
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Abstract

Iron deficiency anemia (IDA) remains a critical health challenge for pregnant women and their offspring, contributing to severe complications. The primary objective of this study was to systematize current knowledge on the impact of genetic factors on the development of IDA in pregnant women, aiming to establish the foundation for personalized diagnostic and therapeutic approaches. A comprehensive review of 316 scientific publications was conducted, with 32 articles meeting the inclusion criteria for in-depth analysis. The study focused on key gene polymorphisms, including TMPRSS6, HFE, SLC40A1, TFR2, and HAMP, which are critical regulators of iron metabolism, as well as their interactions with inflammatory processes and the metabolism of vitamin D and folic acid. The findings underscore the pivotal role of genetic variations in regulating hepcidin synthesis, iron transport, and its bioavailability for erythropoiesis. Significant gaps were identified in the understanding of rare polymorphisms, their combined effects, and their influence on therapeutic efficacy. Additionally, the lack of data on the interplay between genetic factors and metabolic alterations further complicates the development of effective treatment strategies. Advancing research into rare genetic variants and their impact on IDA pathogenesis, along with the development of genetic testing protocols, will be critical steps in fostering personalized medical approaches aimed at enhancing diagnostic precision and therapeutic success.Keywords: hepcidin, anemia, inflammation, metabolism, predisposition, micronutrients, treatment.