Abstract
Background Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. In addition, we aimed to evaluate the diagnostic accuracy of the parameters to separate iron-deficiency anemia (IDA) from anemia of chronic disease. Materials and Methods Iron status parameters and genetic analysis were performed in 126 ESRD patients and in 31 IDA patients as the control group. Results ESRD patients had significantly higher ferritin and hepcidin-25 (<0.001) relative to IDA patients. Cut-off values with the best diagnostic accuracy were found for hepcidin ≥9.32 ng/mL, ferritin ≥48.2 μg/L, transferrin saturation ≥16.8%, and MCV ≥81 fL. Interaction between gender and HFE haplotypes for the hepcidin-25 and ferritin levels in ESRD patients (p = 0.005, partial eta squared = 0.09; p = 0.027, partial eta squared = 0.06, respectively) was found. Serum transferrin was influenced by the combined effect of gender and TMPRSS6 A736V polymorphism in ESRD patients (p = 0.002, partial eta squared = 0.07). Conclusion Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients.
Highlights
Anemia of chronic disease (ACD), called “anemia of inflammation”, is associated with infection, inflammation, malignancy, and in many conditions
The end-stage renal disease (ESRD) group of patients showed significantly higher levels of CRP compared to patients with sideropenic anemia, which is an indicator of chronic inflammation in ESRD patients
Many literature data are dealing with the fact that hepcidin-25 is a significant iron status regulator and may serve as an important mediator in the pathogenesis of the anemia of chronic disease
Summary
Anemia of chronic disease (ACD), called “anemia of inflammation”, is associated with infection, inflammation, malignancy, and in many conditions. The best way to diagnose anemia of chronic disease is to prove a mild or moderate decrease of hemoglobin with normocytic normochromic erythrocytes, low serum iron, and TIBC with normal transferrin saturation, as well as normal or elevated ferritin. Influence of TMPRSS6 A736V and HFE (C282Y and H63D) polymorphisms on serum hepcidin-25 levels and iron status parameters in end-stage renal disease (ESRD) patients stratified according to gender has not been previously investigated. Our findings could contribute to the further investigation of mechanisms involved in the pathophysiology and important gender-related involvement of the TMPRSS6 and HFE polymorphisms on anemia in ESRD patients
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