Published Paper Details:

'Iron deficiency anaemia (IDA)' is considered to be one of the most significant public health problems, not only in adolescent girls and pregnant women living in low- and middle-income countries. While nutritional factors remain the dominant cause, genetic variations in iron metabolism can modify individual susceptibility and influence treatment response. This study investigated the prevalence and clinical impact of HFE (C282Y, H63D) and TFR2 gene polymorphisms in adolescent girls and expecting mothers from Rewa, Madhya Pradesh, India. A total of 520 participants (260 adolescent girls (between the ages of 10 and 18 years) and 260 expecting mothers (first or second trimester or less than 24 weeks during gestation) were assessed for 'hematological indices, serum ferritin, total iron-binding capacity (TIBC), and transferrin saturation (TS%)'. Genotyping was conducted using PCR-RFLP. The HFE C282Y variant was rare, but H63D heterozygosity was frequent and significantly associated with reduced ferritin and TS%, higher TIBC, and increased IDA risk. TFR2 variants showed limited direct association with IDA but may contribute through gene-gene interactions. These findings suggest that HFE H63D polymorphisms may exacerbate iron deficiency risk in high-demand physiological states, warranting genetic screening in anaemia control programs.