Effect of the new HJV-L165X mutation on penetrance of HFE

Dijk, Boukje A. C. van; Kemna, Erwin H.J.M.; Tjalsma, Harold; Klaver, Siem M.; Wiegerinck, Erwin T.; Goossens, Jan-Pieter; Slee, P. H. Th. J.; Breuning, Martijn H.; Swinkels, Dorine W.

doi:10.1182/blood-2006-11-058560

Cited by 25 publications

(19 citation statements)

References 10 publications

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“…13,53,57,58 Less severely decreased, but still clearly low urinary hepcidin levels, were found in patients with TfR2 mutations using the urine dotblot method. 59 Similarly, decreased mRNA levels were seen in liver biopsies of HFE-KO or deficient mice and humans, 60,61 whereas levels ranging to almost normal values in serum and urine were found in HFE-hemochromatosis patients.…”

Section: Hepcidin In Hereditary Hemochromatosismentioning

confidence: 91%

Hepcidin: from discovery to differential diagnosis

Kemna¹,

Tjalsma²,

Willems³

et al. 2008

Haematologica

268

186

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Although iron is essential for living organisms to survive, its reactive properties require strict regulation in order to prevent toxic effects. Hepcidin, a liver produced peptide hormone, is thought to be the central regulator of body iron metabolism. Its production is mainly controlled by the erythropoietic activity of the bone-marrow, the amount of circulating and stored body iron, and inflammation. Recent reports, however, provide new hypotheses on how hepcidin might exert its regulatory function. Although hepcidin was first discovered in human urine and serum, most of our understanding of hepcidin regulation and action comes from in vitro and mice studies that often use hepcidin mRNA expression as a read out. The difficulties in carrying out studies in humans have mostly been due to the lack of suitable hepcidin assay. The recent development of assays to measure hepcidin in serum and urine has offered new opportunities to study hepcidin regulation in humans. However, for the moment, only a small number of laboratories are able to perform these assays. The aim of this review is to discuss insights into hepcidin regulation obtained from recent clinical studies in the light of findings from in vitro and mice studies. Ongoing studies in humans should provide us with more information on the etiology of iron metabolism disorders in order to create new therapeutic strategies and improve differential diagnosis protocols for these diseases.

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Section: Hepcidin In Hereditary Hemochromatosismentioning

confidence: 91%

Hepcidin: from discovery to differential diagnosis

Kemna¹,

Tjalsma²,

Willems³

et al. 2008

Haematologica

268

186

View full text Add to dashboard Cite

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“…Hepcidin quantification via surface-enhanced laser desorption/ionization timeof-flight mass spectrometry (SELDI-TOF-MS) has been described previously (Kemna et al 2005b;Kemna et al 2007). The standard curve of hepcidin-25 that was constructed by exploiting hepcidin-24 as the internal standard Eur J Appl Physiol (2009) 106:51-59 53 and by serially diluting hepcidin-25 in tubes with blank urine from a patient with juvenile hemochromatosis (Van Dijk et al 2007), was linear (R 2 [ 0.99). In addition, spiking of both hepcidin isoforms in different concentration combinations to blank urine revealed no influence of the internal standard hepcidin-24 to the peak height and position of the human hepcidin-25.…”

Section: Sample Collection and Analysismentioning

confidence: 99%

Cumulative effects of consecutive running sessions on hemolysis, inflammation and hepcidin activity

Peeling

Dawson

Goodman³

et al. 2009

Eur J Appl Physiol

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The effect of two running sessions completed within a 12-h period on hemolysis, inflammation, and hepcidin activity in endurance athletes was investigated. Ten males completed two experimental trials in a randomized, counterbalanced order. The two trials included (a) a one-running-session trial (T1) including 10 x 1 km interval repeats (90% peak VO2 velocity), and (b) a two-running-session trial (T2), comprising a continuous 10-km run (70% peak VO2 velocity), and a 10 x 1 km interval run (90% peak VO2 velocity) completed 12 h later. Interleukin-6 (IL-6), free hemoglobin (Hb), haptoglobin (Hp), iron, ferritin, and hepcidin were assessed post-exercise. After the T1 and T2 interval runs, free Hb was significantly increased and Hp significantly decreased (p

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“…The blank serum used in this study was obtained from an iron-depleted patient with juvenile hemochromatosis (10,22 ). Hepcidin concentrations in this patient were below the LLOD as assessed by WCX-TOF-MS (10,18 ).…”

Section: Isoformsmentioning

confidence: 99%