Current approach to hemochromatosis
Tài liệu tham khảo
Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399
Camaschella, 2005, Understanding iron homeostasis through genetic analysis of hemochromatosis and related disorders, Blood, 106, 3710, 10.1182/blood-2005-05-1857
Deugnier Y, Brissot P, Loréal O. Iron and the Liver: Update 2008. J Hepatol 2008:in press.
Pietrangelo, 2007, Hemochromatosis: an endocrine liver disease, Hepatology, 46, 1291, 10.1002/hep.21886
Merryweather-Clarke, 1997, Global prevalence of putative haemochromatosis mutations, J Med Genet, 34, 275, 10.1136/jmg.34.4.275
Poddar, 2006, Hereditary hemochromatosis-Special reference to Indian scenario, Int J Human Genet, 6, 73, 10.1080/09723757.2006.11885947
Dhillon, 2007, Frequency of primary iron overload and HFE gene mutations (C282Y, H63D and S65C) in chronic liver disease patients in north India, World J Gastroenterol, 13, 2956, 10.3748/wjg.v13.i21.2956
Waalen, 2005, The penetrance of hereditary hemochromatosis, Best Pract Res Clin Haematol, 18, 203, 10.1016/j.beha.2004.08.023
Adams, 2005, Hemochromatosis and iron-overload screening in a racially diverse population, N Engl J Med, 352, 1769, 10.1056/NEJMoa041534
Powell, 2006, Screening for hemochromatosis in asymptomatic subjects with or without a family history, Arch Intern Med, 166, 294, 10.1001/archinte.166.3.294
Asberg, 2007, Prevalence of liver fibrosis and cirrhosis in screening-detected C282Y homozygous subjects, Scand J Gastroenterol, 42, 782, 10.1080/00365520601076058
Cade, 2005, Diet and genetic factors associated with iron status in middle-aged women, Am J Clin Nutr, 82, 813, 10.1093/ajcn/82.4.813
Kaltwasser, 1998, Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis, Gut, 43, 699, 10.1136/gut.43.5.699
Barton, 2001, Severity of iron overload in hemochromatosis: effect of volunteer blood donation before diagnosis, Transfusion, 41, 123, 10.1046/j.1537-2995.2001.41010123.x
Distante, 2000, HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis, Gut, 47, 575, 10.1136/gut.47.4.575
Beutler, 2006, Helicobacter pylori infection and HFE hemochromatosis, Blood Cells Mol Dis, 37, 188, 10.1016/j.bcmd.2006.08.002
Bridle, 2006, Hepcidin is down-regulated in alcoholic liver injury: implications for the pathogenesis of alcoholic liver disease, Alcohol Clin Exp Res, 30, 106, 10.1111/j.1530-0277.2006.00002.x
Harrison-Findik, 2006, Alcohol metabolism-mediated oxidative stress down-regulates hepcidin transcription and leads to increased duodenal iron transporter expression, J Biol Chem, 281, 22974, 10.1074/jbc.M602098200
Hutchinson, 2007, Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis, Gut, 56, 1291, 10.1136/gut.2006.108613
Moirand, 1997, Clinical features of genetic hemochromatosis in women compared with men, Ann Intern Med, 127, 105, 10.7326/0003-4819-127-2-199707150-00002
Deugnier, 2002, Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 french people, Br J Haematol, 118, 1170, 10.1046/j.1365-2141.2002.03718.x
Olynyk, 1999, A population-based study of the clinical expression of the hemochromatosis gene, N Engl J Med, 341, 718, 10.1056/NEJM199909023411002
Asberg, 2001, Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons, Scand J Gastroenterol, 36, 1108, 10.1080/003655201750422747
Levy, 2000, Genes that modify the hemochromatosis phenotype in mice, J Clin Invest, 105, 1209, 10.1172/JCI9635
Jacolot, 2004, HAMP as a modifier gene that increase the phenotypic expression of the HFE C282Y homozygous genotype, Blood, 103, 2340, 10.1182/blood-2003-10-3366
Merryweather-Clarke, 2003, Digenic inheritance of mutations in HAMP and HFE results in different types of haemochromatosis, Hum Mol Genet, 12, 2241, 10.1093/hmg/ddg225
Le Gac, 2004, The recently identifiedtype 2A juvenile haemochromatosis gene (HJV), a seconf candidate modifier of the C282Y homozygous phenotype, Hum Mol Genet, 13, 1913, 10.1093/hmg/ddh206
Millet, 2007, Common variants in the BMP2, BMP4, and HJV genes of the hepcidin regulation pathway module HFE hemochromatosis penetrance, Am J Human Genet, 81, 799, 10.1086/520001
Carter, 2003, Haptoglobin type neither influences iron accumulation in normal subjects nor predicts clinical presentation in HFE C282Y haemochromatosis: phenotype and genotype analysis, Br J Haematol, 122, 326, 10.1046/j.1365-2141.2003.04436.x
Gochee, 2002, A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation, Gastroenterology, 122, 646, 10.1016/S0016-5085(02)80116-0
Papanikolaou, 2004, Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis, Nat Genet, 36, 77, 10.1038/ng1274
Roetto, 2003, Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis, Nat Genet, 33, 21, 10.1038/ng1053
Roetto, 2001, New mutations inactivating transferrin receptor 2 in hemochromatosis type 3, Blood, 97, 2555, 10.1182/blood.V97.9.2555
Majore, 2006, Homozygous p.M172K mutation of the TFR2 gene in an Italian family with type 3 hereditary hemochromatosis and early onset iron overload, Haematologica, 91, ECR33
Pietrangelo, 2004, The ferroportin disease, Blood Cells Mol Dis, 32, 131, 10.1016/j.bcmd.2003.08.003
Montosi, 2001, Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene, J Clin Invest, 108, 619, 10.1172/JCI200113468
Njajou, 2001, A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis, Nat Genet, 28, 213, 10.1038/90038
Barton, 2007, SLC40A1 Q248H allele frequencies and Q248H-associated risk of non-HFE iron overload in persons of sub-Saharan African descent, Blood Cells Mol Dis, 39, 206, 10.1016/j.bcmd.2007.03.008
Beutler, 2003, Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans, Blood Cells Mol Dis, 31, 305, 10.1016/S1079-9796(03)00165-7
Subramaniam, 2005, Ferroportin disease due to the A77D mutation in Australia, Gut, 54, 1048, 10.1136/gut.2005.069021
Koyama, 2005, A Japanese family with ferroportin disease caused by a novel mutation of SLC40A1 gene: hyperferritinemia associated with a relatively low transferrin saturation of iron, Intern Med, 44, 990, 10.2169/internalmedicine.44.990
Agarwal, 2006, Ferroportin (SLC40A1) gene in thalassemic patients of Indian descent, Clin Genet, 70, 86, 10.1111/j.1399-0004.2006.00644.x
Wallace, 2004, Autosomal dominant iron overload due to a novel mutation of ferroportin1 associated with parenchymal iron loading and cirrhosis, J Hepatol, 40, 710, 10.1016/j.jhep.2003.12.008
Miyajima, 2003, Aceruloplasminemia, an inherited disorder of iron metabolism, Biometals, 16, 205, 10.1023/A:1020775101654
Yoshida, 1995, A mutation in the ceruloplasmin gene is associated with systemic hemosiderosis in humans, Nat Genet, 9, 267, 10.1038/ng0395-267
Knisely, 2004, Molecular characterization of a third case of human atransferrinemia, Blood, 104, 2607, 10.1182/blood-2004-05-1751
Beaumont, 2006, Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload, Blood, 107, 4168, 10.1182/blood-2005-10-4269
Camaschella, 2007, The human counterpart of zebrafish shiraz shows sideroblastic-like microcytic anemia and iron overload, Blood, 110, 1353, 10.1182/blood-2007-02-072520
Krause, 2000, LEAP-1, a novel highly disulfide-bonded human peptide, exhibits antimicrobial activity, FEBS Lett, 480, 147, 10.1016/S0014-5793(00)01920-7
Park, 2001, Hepcidin, a urinary antimicrobial peptide synthesized in the liver, J Biol Chem, 276, 7806, 10.1074/jbc.M008922200
Pigeon, 2001, A new mouse liver-specific gene, encoding a protein homologous to human antimicrobial peptide hepcidin, is overexpressed during iron overload, J Biol Chem, 276, 7811, 10.1074/jbc.M008923200
Nemeth, 2003, Hepcidin, a putative mediator of anemia of inflammation, is a type II acute-phase protein, Blood, 101, 2461, 10.1182/blood-2002-10-3235
Nicolas, 2002, Hepcidin, A New Iron Regulatory Peptide, Blood Cells Mol Dis, 29, 327, 10.1006/bcmd.2002.0573
Andrews, 2006, Iron homeostasis, Annu. Rev. Physiol., 69, 16.11
Nemeth, 2004, Hepcidin regulates cellular iron efflux by binding to ferroportin and inducing its internalization, Science, 306, 2090, 10.1126/science.1104742
Rivera, 2005, Synthetic hepcidin causes rapid dose-dependent hypoferremia and is concentrated in ferroportin-containing organs, Blood, 2196, 10.1182/blood-2005-04-1766
Babitt, 2006, Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression, Nat Genet, 38, 531, 10.1038/ng1777
Goswami, 2006, Hereditary hemochromatosis protein, HFE, interaction with transferrin receptor 2 suggests a molecular mechanism for mammalian iron sensing, J Biol Chem, 281, 28494, 10.1074/jbc.C600197200
Calzolari, 2006, TfR2 localizes in lipid raft domains and is released in exosomes to activate signal transduction along the MAPK pathway, J Cell Sci, 119, 4486, 10.1242/jcs.03228
Silvestri, 2007, Furin mediated release of soluble hemojuvelin: a new link between hypoxia and iron homeostasis, Blood
Nicolas, 2001, Lack of hepcidin gene expression and severe tissue iron overload in upstream stimulatory factor 2 (USF2) knockout mice, Proc Natl Acad Sci USA, 98, 8780, 10.1073/pnas.151179498
Hershko, 1978, Non-specific serum iron in thalassaemia: an abnormal serum iron fraction of potential toxicity, Br J Haematol, 40, 255, 10.1111/j.1365-2141.1978.tb03662.x
Hider, 2002, Nature of nontransferrin-bound iron, Eur J Clin Invest, 32, 50, 10.1046/j.1365-2362.2002.0320s1050.x
Brissot, 1985, Efficient clearance of non-transferrin-bound iron by rat liver. Implications for hepatic iron loading in iron overload states, J Clin Invest, 76, 1463, 10.1172/JCI112125
Esposito, 2003, Labile plasma iron in iron overload: redox activity and susceptibility to chelation, Blood, 102, 2670, 10.1182/blood-2003-03-0807
De Domenico, 2007, Ferroxidase activity is required for the stability of cell surface ferroportin in cells expressing GPI-ceruloplasmin, Embo J, 26, 2823, 10.1038/sj.emboj.7601735
Loreal O, Nemeth E, Le Lan C, et al. Abnormal expression of hepcidin during genetic hemochromatosis, alcoholic cirrhosis,and dysmetabolic hepatosiderosis-Abstract. International Bio-Iron Society.Kyoto.April, 1–6,2007. Am J Hematol 2008;in press.
Ferrante, 2005, Hereditary hyperferritinaemia-cataract syndrome: a challenging diagnosis for the hepatogastroenterologist, Eur J Gastroenterol Hepatol, 17, 1247, 10.1097/00042737-200511000-00016
Gandon, 2004, Non-invasive assessment of hepatic iron stores by MRI, Lancet, 33, 338
Deugnier, 2007, Pathology of hepatic iron overload, World J Gastroenterol, 13, 4755, 10.3748/wjg.v13.i35.4755
Sebastiani, 2006, Non invasive fibrosis biomarkers reduce but not substitute the need for liver biopsy, World J Gastroenterol, 12, 3682, 10.3748/wjg.v12.i23.3682
Stauber, 2007, Noninvasive diagnosis of hepatic fibrosis in chronic hepatitis C, World J Gastroenterol, 13, 4287, 10.3748/wjg.v13.i32.4287
Deugnier, 2002, Increased body iron stores in elite road cyclists, Med Sci Sports Exerc, 34, 876, 10.1097/00005768-200205000-00023
Tanno, 2007, High levels of GDF15 in thalassemia suppress expression of the iron regulatory protein hepcidin, Nat Med, 13, 1096, 10.1038/nm1629
Le Gac, 2004, Early onset hereditary hemochromatosis resulting from a novel TFR2 gene nonsense mutation (R105X) in two siblings of north French descent, Br J Haematol, 125, 674, 10.1111/j.1365-2141.2004.04950.x
HAS. French recommendations for management of HFE hemochromatosis. Haute Autorité de Santé 2005; www.has-sante.fr.
Brissot, 2006, Current approaches to the management of hemochromatosis, Hematology Am Soc Hematol Educ Program, 36, 10.1182/asheducation-2006.1.36