Literature DB >> 29588838

The clinical management of hereditary haemochromatosis.

Marinos Pericleous1,2, Claire Kelly1,2.   

Abstract

Hereditary haemochromatosis is an autosomal recessive disorder with variable penetrance. Most patients are C282Y homozygotes while heterozygotes or patients who are homozygous with other mutations are uncommonly affected. The true genotype to phenotype expression remains unclear. Treatment with phlebotomy is highly effective and cost-efficient while liver transplantation confers a curative option.

Entities:  

Keywords:  haemochromatosis; iron metabolism; iron overload

Year:  2017        PMID： 29588838      PMCID： PMC5868443          DOI： 10.1136/flgastro-2017-100872

Source DB:  PubMed          Journal:  Frontline Gastroenterol        ISSN： 2041-4137


  18 in total

1.  A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis.

Authors:  J N Feder; A Gnirke; W Thomas; Z Tsuchihashi; D A Ruddy; A Basava; F Dormishian; R Domingo; M C Ellis; A Fullan; L M Hinton; N L Jones; B E Kimmel; G S Kronmal; P Lauer; V K Lee; D B Loeb; F A Mapa; E McClelland; N C Meyer; G A Mintier; N Moeller; T Moore; E Morikang; C E Prass; L Quintana; S M Starnes; R C Schatzman; K J Brunke; D T Drayna; N J Risch; B R Bacon; R K Wolff
Journal:  Nat Genet       Date:  1996-08       Impact factor: 38.330

2.  The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis.

Authors:  Alissa Walsh; Jeannette L Dixon; Grant A Ramm; David G Hewett; Douglas J Lincoln; Gregory J Anderson; V Nathan Subramaniam; Julian Dodemaide; Juleen A Cavanaugh; Mark L Bassett; Lawrie W Powell
Journal:  Clin Gastroenterol Hepatol       Date:  2006-09-18       Impact factor: 11.382

3.  EASL clinical practice guidelines for HFE hemochromatosis.

Authors: 
Journal:  J Hepatol       Date:  2010-04-18       Impact factor: 25.083

4.  Haemochromatosis and HLA-H.

Authors:  E C Jazwinska; L M Cullen; F Busfield; W R Pyper; S I Webb; L W Powell; C P Morris; T P Walsh
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

5.  Haemochromatosis and HLA-H.

Authors:  A M Jouanolle; G Gandon; P Jézéquel; M Blayau; M L Campion; J Yaouanq; J Mosser; P Fergelot; B Chauvel; P Bouric; G Carn; N Andrieux; I Gicquel; J Y Le Gall; V David
Journal:  Nat Genet       Date:  1996-11       Impact factor: 38.330

Review 6.  Diagnosis and management of hemochromatosis.

Authors:  B R Bacon
Journal:  Gastroenterology       Date:  1997-09       Impact factor: 22.682

Review 7.  Haemochromatosis.

Authors:  Lawrie W Powell; Rebecca C Seckington; Yves Deugnier
Journal:  Lancet       Date:  2016-03-12       Impact factor: 79.321

8.  The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.

Authors:  Patricia Aguilar-Martinez; Michael Bismuth; François Blanc; Pierre Blanc; Severine Cunat; Olivier Dereure; Pierre Dujols; Muriel Giansily-Blaizot; Christian Jorgensen; Amadou Konate; Dominique Larrey; Alain Le Quellec; Thibault Mura; Isabelle Raingeard; Jeanne Ramos; Eric Renard; Florence Rousseau; Jean-François Schved; Marie-Christine Picot
Journal:  Haematologica       Date:  2010-02-09       Impact factor: 9.941

9.  Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA.

Authors:  Ernest Beutler; Vincent J Felitti; James A Koziol; Ngoc J Ho; Terri Gelbart
Journal:  Lancet       Date:  2002-01-19       Impact factor: 79.321

10.  Mutation analysis in hereditary hemochromatosis.

Authors:  E Beutler; T Gelbart; C West; P Lee; M Adams; R Blackstone; P Pockros; M Kosty; C P Venditti; P D Phatak; N K Seese; K A Chorney; A E Ten Elshof; G S Gerhard; M Chorney
Journal:  Blood Cells Mol Dis       Date:  1996       Impact factor: 3.039
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  1 in total

1.  Correlation of genotype and phenotype in 32 patients with hereditary hemochromatosis in China.

Authors:  Liyan Wu; Wei Zhang; Yanmeng Li; Donghu Zhou; Bei Zhang; Anjian Xu; Zhen Wu; Lina Wu; Shuxiang Li; Xiaoming Wang; Xinyan Zhao; Qianyi Wang; Min Li; Yu Wang; Hong You; Jian Huang; Xiaojuan Ou; Jidong Jia
Journal:  Orphanet J Rare Dis       Date:  2021-09-28       Impact factor: 4.123
  1 in total

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