Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes.
OBJECTIVE
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.


CONCLUSIONS
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.
Arnold
Jayantha
J
Department of Gastroenterology, Ealing Hospital, NHS Trust, London, UB1 3HW, UK. jayanthaarnold@hotmail.com
Sangwaiya
Arvind
A
Manglam
Vijay
V
Thursz
Mark
M
Beaumont
Caroline
C
Kannengiesser
Caroline
C
Busbridge
Mark
M
D000328:Adult; D023181:Antimicrobial Cationic Peptides / Q000097:blood*; D001052:Apoferritins / Q000235:genetics / Q000378:metabolism; D001706:Biopsy; D016022:Case-Control Studies; D002386:Cataract / Q000097:blood / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D005260:Female; D022781:Hepatocytes / Q000378:metabolism* / Q000473:pathology; D064451:Hepcidins; D006801:Humans; D007501:Iron / Q000378:metabolism*; D019189:Iron Metabolism Disorders / Q000097:blood / Q000151:congenital / Q000473:pathology / Q000503:physiopathology; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics
D023181:Antimicrobial Cationic Peptides; C578702:HAMP protein, human; D064451:Hepcidins; D001052:Apoferritins; D007501:Iron