Aim: To study the role of hepcidin in hereditary hyperferritinemia cataract syndrome (HHCS).
Methods: Six patients from two families with HHCS, confirmed by genetic analysis showing A to G mutation at position +40 in the L-ferritin gene, were recruited to undergo serum hepcidin and prohepcidin measurements using radioimmunoassay and enzyme linked immunoassay, respectively, and measurements were compared with levels in serum from 25 healthy volunteers (14 females), mean age 36 +/- 11.9 years.
Results: The serum hepcidin and prohepcidin levels in patients with HHCS were 19.1 +/- 18.6 and 187 +/- 120.9 ng/mL, respectively. Serum ferritin was 1716.3 +/- 376 microg/L. Liver biopsy in one patient did not show any evidence of iron overload. Serum hepcidin and prohepcidin values in healthy controls (HCs) were 15.30 +/- 15.71 and 236.88 +/- 83.68 ng/mL, respectively, while serum ferritin was 110 +/- 128.08 microg/L. There was no statistical difference in serum hepcidin level between the two cohorts (19.1 +/- 18.6 ng/mL vs 15.30 +/- 15.71 ng/mL, P = 0.612) using two-tailed t-test.
Conclusion: Serum hepcidin levels in HHCS patients is similar to that in HCs. Our study suggests that circulating ferritin is not a factor influencing hepcidin synthesis and does not have a role in the iron-sensing mechanism in hepatocytes.