Abstract

Background: Hereditary hemochromatosis (HH) is a primary iron overload (IO) condition. Absolute telomere length (ATL) is a marker of cellular aging and DNA damage associated with chronic diseases and mortality.Aim: To evaluate the relationship between ATL and IO in patients with HH.Methods: Cross-sectional study including 25 patients with HH: 8 with IO and 17 without IO (ferritin < 300 ng/ml) and 25 healthy controls. Inclusion criteria were: age > 18 years, male sex and HH diagnosis. Patients with diabetes or other endocrine and autoimmune diseases were excluded. ATL was measured by real-time PCR.Results: HH patients with IO were older (P<0.001) and showed higher ferritin concentration (P<0.001). Patients with HH, disregarding the iron status, showed higher glucose and body mass index (BMI) than controls (both P<0.01). ATL was shorter in patients with IO than controls [with IO: 8 (6–14), without IO: 13 (9–20), and controls: 19 (15–25) kilobase pairs, P<0.01]; with a linear trend within groups (P for trend <0.01). Differences in ATL remained statistically significant after adjusting by age, BMI and glucose (P<0.05).Discussion: Patients with IO featured shorter ATL while patients without IO showed only mild alterations vs. controls. Screening for IO is encouraged to prevent iron-associated cellular damage and early telomere attrition.

Highlights

  • Hereditary hemochromatosis (HH) is a primary condition, which might lead to iron overload (IO) depending on host and ambient factors

  • When the homeostatic iron regulator (HFE) protein is bound to the transferrin (Tf) receptor (TfR) 1, the receptor cannot bind to Tf preventing the entrance of iron to liver cells

  • HH patients with overt IO were older (P

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Summary

Introduction

Hereditary hemochromatosis (HH) is a primary condition, which might lead to iron overload (IO) depending on host and ambient factors. The HFE gene encodes a protein that is located on the surface of cells, primarily liver, intestinal and immune cells. This protein interacts with other proteins on the cell surface to detect the amount of iron in the body. When the HFE protein is bound to the transferrin (Tf) receptor (TfR) 1, the receptor cannot bind to Tf preventing the entrance of iron to liver cells. Absolute telomere length (ATL) is a marker of cellular aging and DNA damage associated with chronic diseases and mortality. Patients with HH, disregarding the iron status, showed higher glucose and body mass index (BMI) than controls (both P

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