Current approach to hemochromatosis

Brissot, Pierre; Troadec, Marie‐Bérengère; Bardou-Jacquet, Édouard; Lan, Caroline Le; Jouanolle, Anne–Marie; Deugnier, Yves; Loréal, Olivier

doi:10.1016/j.blre.2008.03.001

Cited by 111 publications

(105 citation statements)

References 112 publications

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“…The homozygous p.Cys282Tyr mutation of HFE gene is the most frequent etiology of genetic hemochromatosis (GH) 6 linked to an inaccurate low level of hepcidin regarding iron status. 7,8 The molecular mechanisms linking the p.Cys282Tyr mutation and low hepcidin levels are not fully characterized.…”

Section: Introductionmentioning

confidence: 99%

“…HFE related GH is a disease with incomplete penetrance. 6 This suggests that modifier genes modulate the expressivity of HFE hemochromatosis. Mutations in hepcidin (HAMP), TFR2 or HJV genes have been demonstrated to favor the development of iron overload in p.Cys282Tyr heterozygote patients 14 and to increase iron burden in p.Cys282Tyr HFE homozygotes.…”

Section: Introductionmentioning

confidence: 99%

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A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Island¹,

Jouanolle²,

Mosser³

et al. 2009

Haematologica

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BPM-RE. In conclusion, our results suggest that a mutation in the BMP-RE of hepcidin promoter may impact on human iron metabolism.Key words: hepcidin, BMP, hemochromatosis, iron, gene expression. hemochromatosis. Haematologica 2009; 94:720-724. doi: 10.3324/haematol.2008 This is an open-access paper. Citation: Island M-L, Jouanolle A-M, Mosser A, Deugnier Y, David V, Brissot P, and Loréal O. A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related ABSTRACTA new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis © F e r r a t a S t o r t i F o u n d a t i o n Design and Methods Patient and genetic studiesIn 1994, the diagnosis of genetic hemochromatosis was established in a 37-year old man with massive hepatic iron overload (450 µmoL of iron/g dry liver weight, n<36) involving mainly hepatocytes and associated to liver fibrosis stage 2-3 in Metavir classification. 18 Iron depletive treatment based on weekly 400 mL phlebotomies was initiated. In 1997, the patient was demonstrated to be homozygous for the p.Cys282Tyr mutation. In 2004 (47 years), 468 venesections had been performed, corresponding to the removal of 85g of iron. However, the patient was always exhibiting abnormal iron parameters with 40 µmol/L for serum iron, 100% for transferrin saturation, and 2,066 µg/L for serum ferritin. In addition, hepatic iron concentration remained very high (close to 300 µmol/g dry liver weight) at MRI. Serum hepcidin level quantified by Elisa 19 was low (24 ng/L; 29

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Island¹,

Jouanolle²,

Mosser³

et al. 2009

Haematologica

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show abstract

“…The liver is the main iron storage site and the liver iron concentration (LIC) gives a very accurate picture of total body iron stores in patients with secondary hemosideroses such as thalassemia major, sickle cell disease and genetic hemochromatosis [49,50]. MRI is now the preferred technique for estimating and monitoring iron stores in patients without kidney disease because of its reproducibility, sensitivity, availability and ability to scan multiple organs in the same session [51,52].…”

Section: Noninvasive Imaging Of Liver Iron Stores By Mri: Specific Fementioning

confidence: 99%

Iatrogenic iron overload and its potential consequences in patients on hemodialysis

Rostoker

Vaziri

2017

La Presse Médicale

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“…There is irrefutable evidence that an increased iron burden can intensify and iron depletion by phlebotomy can ameliorate hepatitis and modify the response to interferon therapy. 63,[74][75] In addition, the stainable iron level in hepatocytes and portal tract cells is a predictor of progression and clinical outcomes in advanced chronic hepatitis C. 76 Therefore, caution should be exercised in the use of IV iron in patients with liver disease.…”

Section: Potential Adverse Effects Of IV Iron On the Livermentioning

confidence: 99%

Safety Issues in Iron Treatment in CKD

Vaziri

2016

Seminars in Nephrology

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Current approach to hemochromatosis

Cited by 111 publications

References 112 publications

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

A new mutation in the hepcidin promoter impairs its BMP response and contributes to a severe phenotype in HFE related hemochromatosis

Iatrogenic iron overload and its potential consequences in patients on hemodialysis

Safety Issues in Iron Treatment in CKD

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