HAMP Polymorphism and Iron Deficiency Anemia in Saudi Females

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HAMP Polymorphism and Iron Deficiency Anemia in Saudi Females

Iron levels are maintained by the body through sophisticated mechanisms. The iron homeostasis governs the uptake of dietary iron and can mobilize iron from the stores to keep up with the erythropoietic needs of the body and recycle the previously used iron. This intricate balance requires prompt and precise communication between the cells which use iron, and the cells that acquire or store iron.

Hepcidin Antimicrobial Peptide (HAMP) is a coding gene that instructs for the synthesis of protein known as hepcidin. Hepcidin is a small peptide that is formed mainly in the liver (also expressed in the heart, lungs, brain, spinal cord, intestine, stomach, pancreas, adipocytes, skeletal muscles, testis, and macrophages) has a significant role in Iron Homeostasis. Hepcidin, encoded by the HAMP gene is believed to have 25 amino acid peptides, which apart from working on Iron Homeostasis, has a role to perform in innate immunity too. Regarding the balance of iron levels in the body, hepcidin regulates it by absorbing iron from the intestine and recycling it by macrophages.

It is well known that iron overload and inflammation stimulate the expression of hepcidin, whereas, increase in the erythropoietic activity in the body reduces its production. Also, ameniaand hypoxia are believed to suppress the synthesis of Hepcidin. With elevated blood iron levels, iron enters the liver and activates hepcidin production, which circulates in the bloodstream and stops iron absorption in the small intestine, due to iron overload in the body. This overload is detected based on Liver Iron Concentration and Serum Ferritin.

Certain diseases modify the HAMP promoter to modulate iron overload. The genetic variant associated with beta-thalassemia patients is the c.-582 A>G genetic variant that causes high serum ferritin levels and raised liver iron concentrations.  This polymorphism by genetic variant (c.-582 A>G) was investigated by a team of researchers in the Saudi female population, to identify its association with serum ferritin and serum iron. Previously no research has been conducted to find such association among the Saudi female population, so this study is one of its kind for studying the association of specific nucleotide polymorphisms (SNPs) amongthe specific demographic population.

With 100 plus females enrolled in the study, the investigation was done at The University of Tabuk as per the research ethical guidelines. Biochemical determinants and variant genotypes were studied.  They found that the heterozygosity of the Hepcidin Antimicrobial Peptide promoter polymorphism increased in women who lack serum iron compared with healthy women, but the findings were insignificant.

As for the association between polymorphism in the HAMP promoter as per levels of serum iron and ferritin, no significant relation was found between ferritin and serum iron, but an association of the polymorphism gene was found with iron metabolism.

This provides a good insight into the association of HAMP genotype (c.-582 A>G) with low serum iron levels, which can be of great use in understanding and treating iron-deficiency anemia.

Keywords:

Hepcidin Antimicrobial Peptide (HAMP), HAMP promoter, HAMP genotype, coding gene, iron deficiency, anemia, polymorphism, homeostasis, Serum Ferritin, hepcidin, iron metabolism.

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