Arnold J, Sangwaiya A, Manglam V, Thursz M, Beaumont C, Kannengiesser C, Busbridge M. Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes. World J Gastroenterol 2010; 16(28): 3541-3545 [PMID: 20653062 DOI: 10.3748/wjg.v16.i28.3541]
Corresponding Author of This Article
Jayantha Arnold, Professor, Department of Gastroenterology, Ealing Hospital, NHS Trust, Uxbridge Road, London, UB1 3HW, United Kingdom. jayanthaarnold@hotmail.com
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Brief Article
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World J Gastroenterol. Jul 28, 2010; 16(28): 3541-3545 Published online Jul 28, 2010. doi: 10.3748/wjg.v16.i28.3541
Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes
Jayantha Arnold, Arvind Sangwaiya, Vijay Manglam, Mark Thursz, Caroline Beaumont, Caroline Kannengiesser, Mark Busbridge
Jayantha Arnold, Arvind Sangwaiya, Vijay Manglam, Department of Gastroenterology, Ealing Hospital, London, UB1 3HW, United Kingdom
Mark Thursz, Department of Hepatology, St Mary’s Hospital, Imperial College London, London, W2 1NY, United Kingdom
Caroline Beaumont, Caroline Kannengiesser, Biochemical hormones and Genetics Laboratory, Bichat Claude Bernard Hospital, 46, Rue Henri Huchard, Paris, 75018, France
Mark Busbridge, Clinical Chemistry, Hammersmith Hospital, Imperial College London, London, W6 8RF, United Kingdom
Author contributions: Arnold J designed and wrote the paper; Sangwaiya A performed research, analyzed data and wrote the paper; Manglam V helped with analysis and performed research; Thursz M helped with editing the manuscript; Busbridge M performed laboratory research; Beaumont C and Kannengiesser C performed the genetic analysis.
Supported by Research and Development Department, Ealing Hospital NHS Trust, Uxbridge Road, Southall, London, UB1 3HW, United Kingdom
Correspondence to: Jayantha Arnold, Professor, Department of Gastroenterology, Ealing Hospital, NHS Trust, Uxbridge Road, London, UB1 3HW, United Kingdom. jayanthaarnold@hotmail.com
Telephone: +44-208-9675513 Fax: +44-208-9675083
Received: March 29, 2010 Revised: May 19, 2010 Accepted: May 26, 2010 Published online: July 28, 2010
Abstract
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 μg/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 μg/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.
