Association of iron regulating genes with iron deficiency anaemia (IDA) and iron refractory anaemia

Liew, Jin Rou (2026) Association of iron regulating genes with iron deficiency anaemia (IDA) and iron refractory anaemia. Master dissertation/thesis, UTAR.

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Abstract

Anaemia is a condition of haemoglobin level below the established cut-off level with reduction of erythrocytes and lead to insufficient to meet body’s oxygen demands. This may lead to poor motor, mental performance, low work productivity in adults and poor pregnancy outcome. Many genetic variants in iron regulatory genes have been associated with impairment of iron metabolism, which in leading to iron deficiency anaemia. Malaysia had been reported with high prevalence rate of anaemia up to 13.8% and mostly resulted of iron deficiency. This had led to enormous impact on health quality of life and economic burden due to the healthcare cost. Hence, this had arisen to the attention of this study to elucidate the underlying associated factors including genetic variants in iron regulatory genes to iron metabolising parameters and its predisposition to anaemia. A total of 183 young adult subjects were recruited at Universiti Tunku Abdul Rahman, consisting of 83 males and 100 females. Demographic data, family history, current physiological conditions and clinical history were self-declared by respondents and anthropometric and haemoglobin level were measured. A volume of 6 mL of venous blood was collected for genotyping of genetic variants and measurement of hepcidin and serum iron concentrations. Eight genetic variants from 4 genes (rs10414846, rs10421768, rs855791, rs4820268, rs12769, rs1799852, rs1799945 and rs1800562) were genotyped. Statistical analyses were done using SPSS version 22. This study reported high prevalence of anaemia with 14.75% (27/183) of the population were anaemic. Women who are currently on menstruation and having the experience of menorrhagia in the past 3 months were found to have lower haemoglobin, hepcidin and serum iron level compared to men due to excessive iron loss. Hepcidin expression was downregulated to increase iron absorption to replenish iron loss through menstruation. High BMI was found with higher haemoglobin level. Family history of anaemia shows lower haemoglobin level as inherited blood disorder may contribute to the development of anaemia. Both ethnicity and experience of bleeding problem in the past 3 months were found affect the hepcidin concentration. HAMP gene variant rs10421768 was found with lower serum iron level while TF gene variant rs12769 was found with significantly lower hepcidin and serum iron level. Genetic variants on the same gene were found to show significant difference but no significant difference was found in between genetic variants on different iron regulatory genes. In conclusion, gender, ethnicity, BMI, physiological conditions and genetic factors contributed to the development of anaemia in this study. The significant genetic variants could be potentially using as biomarkers to diagnose on the predisposition to anaemia.

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