Frequency of the HAMP (c.-582 A>G) Polymorphism in Iron Deficiency in Saudi Arabia

Hepcidin, a key element in iron hemostasis, is a small antimicrobial peptide encoded by the HAMP gene on 19q13. Several studies have revealed that the expression of hepcidin is influenced by single nucleotide polymorphisms located in the promoter region of HAMP. Therefore, this research aimed to study the frequency distribution of HAMP promoter genetic variants and their associations with serum iron, serum transferrin and serum ferritin levels in Saudi Arabian women (aged 15-25).

The study was conducted on 108 female subjects, among whom 50 had normal levels of iron and 58 were iron deficient. All participants were enrolled at the University of Tabuk. The HAMP promoter rs10421768 A>G gene polymorphism (c.-582 A>G) was detected by using an allele-specific or amplification-refractory mutation PCR system. The AS-PCR primers were designed by using Primer3 software.

The frequencies of HAMP promoter rs10421768 genotypes AA, AG and GG were 3.45, 96.55 and 0% in the iron-deficient women and 12, 88 and 0% in the healthy women, respectively. The distributions of the HAMP promoter c.-582 A>G genotypes observed between the iron-deficient and normal women were not significantly different (p = 0.239). A significant difference in the HAMP genotype (c.-582 A>G) between the iron-deficient women and healthy women was associated with reduced serum iron (p = 0.049).

The results indicated that the HAMP genotype (c.-582 A>G) was associated with reduced serum iron in women in northern Saudi Arabia. However, no significant difference was found between healthy women and iron-deficient women.