Molecular medicine and hemochromatosis: At the crossroads

Gastroenterology

Volumn 116, Issue 1, 1999, Pages 193-207

  Bacon, B R ^a   Powell, L W ^a   Adams, P C ^a   Kresina, T F ^a   Hoofnagle, J H ^a  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; FERRITIN; IRON; TRANSFERRIN; TRANSFERRIN RECEPTOR;

CLINICAL FEATURE; CONFERENCE PAPER; GENOTYPE; HEMOCHROMATOSIS; HUMAN; IRON ABSORPTION; IRON METABOLISM; IRON RESPONSIVE ELEMENT; IRON TRANSPORT; LIVER BIOPSY; MISSENSE MUTATION; NONHUMAN; PHENOTYPE; PHLEBOTOMY; PRIORITY JOURNAL;

EID: 0032955556     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(99)70244-1     Document Type: Conference Paper

References (101)

1. A. Trousseau Glycosurie, diabète, sucré 2nd ed Clinique Médicale del'Hotel-Dieu de Paris Volume 2 1865 : Balliere Paris 663
2. FD. Von Recklinghausen Über Hämochromatose Tagebl Versamml Natur Ärzte Heidelberg 62 1889 324
3. JH. Sheldon Haemochromatosis 1935 : Oxford University London
4. M Simon M Bourel B Genetet R. Fauchet Idiopathic hemochromatosis. Demonstration of recessive transmission and early detection by family HLA typing N Engl J Med 297 1977 1017 1021
5. JN Feder A Gnirke W Thomas Z Tsuchihashi DA Ruddy A Basava F Dormishian R Domingo Jr MC Ellis A Fullan LM Hinton NL Jones BE Kimmel GS Kronmal P Lauer VK Lee DB Loeb FA Mapa E McClelland NC Meyer GA Mintier N Moeller T Moore E Morikang CE Prass L Quintana SM Starnes RC Schatzman KJ Brunke DT Drayna NJ Risch BR Bacon RK. Wolff A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
6. JG Bodmer P Parham ED Albert SGE Marsh for the WHO Nomenclature Committee for Factors of the HLA System Putting a hold on ‘HLA-H.’ Nat Genet 15 1997 234 235
7. E Beutler T Gelbart C West P Lee M Adams R Blackstone P Pockros M Kosty CP Venditti PD Phatak NK Seese KA Chorney AE Ten Elshof GS Gerhard M. Chorney Mutation analysis in hereditary hemochromatosis Blood Cells Mol Dis 22 1996 187 194
8. JC Barton WW Shih R Sawada-Hirai RT Acton L Harmon C Rivers BE. Rothenberg Genetic and clinical description of hemochromatosis probands and heterozygotes: evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis Blood Cells Mol Dis 23 1997 135 145
9. PC Adams ML Campion G Gandon J-Y Le Gall V David A-M. Jouanolle Clinical and family studies in genetic hemochromatosis: microsatellite and HFE studies in five atypical families Hepatology 26 1997 986 990
10. EC Jazwinska LM Cullen F Busfield WR Pyper SI Webb LW Powell CP Morris TP. Walsh Haemochromatosis and HLA-H Nat Genet 14 1996 249 251
11. The UK Haemochromatosis Consortium A simple genetic test identifies 90% of UK patients with haemochromatosis Gut 41 1997 841 844
12. EMP Cardoso P Stål K Hagen JM Cabeda S Esin M de Sousa R. Hultcrantz HFE mutations in patients with hereditary haemochromatosis in Sweden J Intern Med 243 1998 203 208
13. A-M Jouanolle G Gandon P Jezequal M Blayau ML Campion J Mosser P Fergelot B Chauvel P Bouric G Carn N Andrieux I Gicquel J-Y. Le Gall Haemochromatosis and HLA-H Nat Genet 14 1996 251 252
14. N Borot M-P Roth L Malfroy C Demangel J-P Vinel J-P Pascal H. Coppin Mutations in the MHC class I–like candidate gene for hemochromatosis in French patients Immunogenetics 45 1997 320 324
15. M Carella L D'Ambrosio A Totaro A Grifa M Valentino A Piperno D Girelli A Roetto C Franco P Gasparini C. Camaschella Mutation analysis of the HLA-H gene in Italian hemochromatosis patients Am J Hum Genet 60 1997 828 832
16. XY Zhou S Tomatsu RE Fleming S Parkkila A Waheed J Jiang Y Fei EM Brunt DA Ruddy CE Prass RC Schatzman R O'Neill RS Britton BR Bacon WS. Sly HFE gene knockout produces mouse model of hereditary hemochromatosis Proc Natl Acad Sci USA 95 1998 2492 2497
17. T Rouault R. Klausner Regulation of iron metabolism in eukaryotes Curr Top Cell Regul 35 1997 1 19
18. JB Harford RD. Klausner Coordinate post-transcriptional regulation of ferritin and transferrin receptor expression: the role of regulated RNA-protein interaction Enzyme 44 1990 28 41
19. KJ Addess JP Basilion RD Klausner TA Rouault A. Pardi Structure and dynamics of the iron responsive element RNA: implications for binding of the RNA by iron regulatory binding proteins J Mol Biol 274 1997 72 83
20. HY Kim RD Klausner TA. Rouault Translational repressor activity is equivalent and is quantitatively predicted by in vitro RNA binding for two iron-responsive element binding proteins, IRP1 and IRP2 J Biol Chem 270 1995 4983 4986
21. K Iwai SK Drake NB Wehr AM Weissman T LaVaute N Minato RD Klausner RL Levine TA. Rouault Iron-dependent oxidation, ubiquitination, and degradation of iron regulatory protein 2: implications for degradation of oxidized proteins Proc Natl Acad Sci USA 95 1998 4924 4928
22. H Gunshin B Mackenzie UV Berger Y Gunshin MF Romero WF Boron S Nussberger JL Gollan MA. Hediger Cloning and characterization of a mammalian proton-coupled metal-ion transporter Nature 388 1997 482 488
23. MD Fleming CC Trenor MA Su D Foernzler DR Beier WF Dietrich NC. Andrews Microcytic anaemia mice have a mutation in Nramp2, a candidate iron transporter gene Nat Genet 16 1997 383 386
24. MD Fleming MA Romano MA Su LM Garrick MD Garrick NC. Andrews Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport Proc Natl Acad Sci USA 95 1998 1148 1153
25. JN Feder Z Tsuchihashi A Irrinki VK Lee FA Mapa E Morikang CE Prass SM Starnes RK Wolff S Parkkila WS Sly RC. Schatzman The hemochromatosis founder mutation in HLA-H disrupts β2 microglobulin interaction and cell surface expression J Biol Chem 272 1997 14025 14028
26. S Parkkila A Waheed RS Britton BR Bacon XY Zhou S Tomatsu RE Fleming WS. Sly Association of the transferrin receptor in human placenta with HFE, the protein detective in hereditary hemochromatosis Proc Natl Acad Sci USA 94 1997 13198 13202
27. JN Feder DM Penny A Irrinki VK Lee JA Lebron N Watson Z Tsuchihashi E Sigal PJ Bjorkman RC. Schatzman The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding Proc Natl Acad Sci USA 17 1998 1472 1477
28. 2-microglobulin, intracellular processing, and cell surface expression of the HFE protein in COS-7 cells Proc Natl Acad Sci USA 94 1997 12384 12389
29. 2-microglobulin knockout mice recapitulates hereditary hemochromatosis in man J Exp Med 184 1996 1975 1985
30. JA Lebron MJ Bennett DE Vaughn AJ Chirino PM Snow GA Mintier JN Feder PJ. Bjorkman Crystal structure of the hemochromatosis protein HFE and characterization of its interaction with transferrin receptor Cell 93 1998 111 123
31. S Parkkila A Waheed RS Britton JN Feder Z Tsuchihashi RC Schatzman BR Bacon WS. Sly Immunohistochemistry of HLA-H, the protein defective in patients with hereditary hemochromatosis, reveals unique pattern of expression in gastrointestinal tract Proc Natl Acad Sci USA 94 1997 2534 2539
32. BN Smith W Kantrowitz ND Grace MS Greenberg TJ Patton R Ookubo K Sorger JG Semeraro JR Doyle AG Cooper BR Kamat LM Maregni WM. Rand Prevalence of hereditary hemochromatosis in a Massachusetts corporation: is Celtic origin a risk factor? Hepatology 25 1997 1439 1446
33. AT Merryweather-Clarke JJ Pointon JD Shearman KJ. Robson Global prevalence of putative haemochromatosis mutations J Med Genet 34 1997 275 278
34. A Piperno M Sampietro A Pietrangelo C Arosio L Lupica G Montosi A Vergani M Fraquelli D Girelli P Pasquero A Roetto P Gasparini S Gargion D Conte C. Camaschella Heterogeneity of hemochromatosis in Italy Gastroenterology 114 1998 996 1002
35. VR Gordeuk CE McLaren AC Looker V Hasselblad GM. Brittenham Distribution of transferrin saturations in the African-American population Blood 91 1998 2175 2179
36. PD Phatak R Sham MT O'Leary K Dunnigan R Raubertas J. Cappuccio Prevalence of hereditary hemochromatosis in primary care (abstr) Blood 86 1995 129A
37. V Gordeuk J Mukiibi SJ Hasstedt W Samowitz CQ Edwards G West S Ndambire J Emmanual N Nkanza Z Chapanduka M Randall P Boone P Romano RW Martell T Yamashita P Effler G. Brittenham Iron overload in Africa: interaction between a gene and dietary iron content N Engl J Med 326 1992 95 100
38. RK Wurapa VR Gordeuk GM Brittenham A Khiyami GP Schechter CQ. Edwards Primary iron overload in African Americans Am J Med 101 1996 9 18
39. KG Monaghan BA Rybicki M Shurafa GL. Feldman Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans Am J Hematol 58 1998 213 217
40. CQ Edwards LM Griffen D Goldgar C Drummond MH Skolnick JP. Kushner Prevalence of hemochromatosis among 11,065 presumably healthy blood donors N Engl J Med 318 1988 1355 1362
41. ML Bassett BA Leggett JW Halliday S Webb LW. Powell Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers J Hepatol 27 1997 517 524
42. DM Baer JL Simons RL Staples GJ Rumore CJ. Morton Hemochromatosis screening in asymptomatic ambulatory men 30 years of age and older Am J Med 98 1995 464 468
43. BA Leggett JW Halliday NN Brown S Bryant W. Powell Prevalence of haemochromatosis amongst asymptomatic Australians Br J Haematol 74 1990 525 530
44. W Burke E Thomson MJ Khoury SM McDonnell N Press PC Adams JC Barton E Beutler G Brittenham A Buchanan EW Clayton ME Cogswell EM Meslin AG Motulsky LW Powell E Sigal BS Wilfond FS. Collins Hereditary hemochromatosis: gene discovery and implications for population-based screening JAMA 280 1998 172 178
45. SM McDonnell D. Witte Hereditary hemochromatosis. Preventing chronic effects of this underdiagnosed disorder Postgrad Med 102 1997 83 94
46. CE McLaren GJ McLachlan JW Halliday SI Webb BA Leggett EC Jazwinska DHG Crawford VR Gordeuk GD McLaren LW. Powell Distribution of transferrin saturation in an Australian population: relevance to the early diagnosis of hemochromatosis Gastroenterology 114 1998 543 549
47. V Balan W Baldus V Fairbanks V Michels M Burritt G. Klee Screening for hemochromatosis: a cost-effectiveness study based on 12,258 patients Gastroenterology 107 1994 453 459
48. PD Phatak G Guzman JE Woll A Robeson CE. Phelps Cost-effectiveness of screening for hereditary hemochromatosis Arch Intern Med 154 1994 769 776
49. PC Adams JC Gregor AE Kertesz LS. Valberg Screening blood donors for hereditary hemochromatosis: decision analysis based on a 30-year database Gastroenterology 109 1995 177 188
50. PC Adams AE Kertesz R Barr A Bamford S. Chakrabarti Population screening for hemochromatosis with the unbound iron-binding capacity (UIBC) (abstr) Gastroenterology 114 1998 A1199
51. J Olynyk H Marshall L Crostella B Murphy S Aquilia D Cullen R Rossi L Summerville F Busfield L Coupland L Cullen E Jazwinska L. Powell Population screening for the hemochromatosis mutation and biochemical expression (abstr) Hepatology 26 1997 199A
52. GE Cartwright CQ Edwards K Kravitz M Skolnick DB Amos A Johnson L. Buskjaer Hereditary hemochromatosis. Phenotypic expression of the disease N Engl J Med 301 1979 175 179
53. C Niederau R Fischer A Purschel W Stremmel D Haussinger G. Strohmeyer Long-term survival in patients with hereditary hemochromatosis Gastroenterology 110 1996 1107 1119
54. PC Adams Y Deugnier R Moirand P. Brissot The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis Hepatology 25 1997 162 166
55. R Moirand PC Adams V Bicheler P Brissot Y. Deugnier Clinical features of genetic hemochromatosis in women compared with men Ann Intern Med 127 1997 105 110
56. DHG Crawford EC Jazwinski LM Cullen LW. Powell Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation Gastroenterology 114 1998 1003 1008
57. PC Adams S. Chakrabarti Genotypic/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria Gastroenterology 114 1998 319 323
58. RL Sham CY Ou J Cappuccio C Braggins K Dunnigan PD. Phatak Correlation between genotype and phenotype in hereditary hemochromatosis: analysis of 61 cases Blood Cells Mol Dis 23 1997 314 320
59. NJ Shaheen BR Bacon IS. Grimm Clinical characteristics of hereditary hemochromatosis patients who lack the C282Y mutation Hepatology 28 1998 526 529
60. JP Kaltwasser K Schalk E. Werner Juvenile hemochromatosis Ann NY Acad Med 526 1988 339 341
61. C Camaschella A Roetto M Cicilano P Pasquero S Bosio L Gubetta F Di Vito D Girelli A Totaro M Carella A Grifa P. Gasparini Juvenile and adult hemochromatosis are distinct genetic disorders Eur J Hum Genet 5 1997 371 375
62. MM Silver DW Beverley LS Valberg E Cutz MJ Phillips WA. Shaheed Perinatal hemochromatosis: clinical, morphologic, and quantitative iron studies Am J Pathol 128 1987 538 554
63. S Goldfischer HW Grotsky C-H Chang EL Berman RR Richert SD Karmarkar JO Roskamp R. Morecki Idiopathic neonatal iron storage involving the liver, pancreas, heart, and endocrine and exocrine glands Hepatology 1 1981 58 64
64. RJ Eason PC Adams CE Aston J. Searle Familial iron overload with possible autosomal dominant inheritance Aust NZ J Med 20 1990 226 230
65. P Pillay E Tzoracoleftherakis AG Tzakis S Kakizoe DH Van Thiel TE. Starzl Orthotopic liver transplantation for hemochromatosis Transplant Proc 23 1991 1888 1889
66. VE Kilpe H Krakauer RE. Wren An analysis of liver transplantation experience from 37 transplant centers reported to Medicare Transplantation 56 1993 554 561
67. KV Kowdley T Hassanein S Kaur FJ Farrell DH Van Thiel EB Keffe MF Sorrell BR Bacon FL Weber Jr AS. Tavill Primary liver cancer and survival in patients undergoing liver transplantation for hemochromatosis Liver Transpl Surg 1 1995 237 241
68. FJ Farrell M Nguyen S Woodley JC Imperial R Garcia-Kennedy KM Man CO Esquivel EB. Keeffe Outcome of liver transplantation in patients with hemochromatosis Hepatology 20 1994 404 410
69. MI Fiel TD Schiano HC Bodenheimer Jr SN Thung CM Miller BR. Bacon Genotypic, biochemical and histological analysis for hereditary hemochromatosis in liver transplant patients (abstr) Hepatology 26 1997 159A
70. DJ Brandhagen MK Porayko TP Moyer WP Baldus KE Kruckeberg RH Wiesner SN. Thibodeau Genetic testing for hemochromatosis in liver transplant recipients with hepatic explant hemosiderosis (abstr) Hepatology 26 1997 158A
71. JT Minguillan RG Lee R Britton R Wolff AJ Demetris BR Bacon J. Rakela Genetic markers for hemochromatosis in patients with cirrhosis and iron overload (abstr) Hepatology 26 1997 158A
72. J Ludwig E Hashimoto MK Porayko TP Moyer WP. Baldus Hemosiderosis in cirrhosis: a study of 447 native livers Gastroenterology 112 1997 882 888
73. N Milman N Graudal J Hegnhoj P Christoffersen NS. Pedersen Relationship among serum iron status markers, chemical and histochemical liver iron content in 117 patients with alcoholic and non-alcoholic hepatic disease Hepatogastroenterology 41 1994 20 24
74. AM Di Bisceglie CA Axiotis JH Hoofnagle BR. Bacon Measurements of iron status in patients with chronic hepatitis Gastroenterology 102 1992 2108 2113
75. ML Bassett JW Halliday LW. Powell Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis Hepatology 6 1986 24 29
76. PC Adams C Bradley AR. Henderson Evaluation of the hepatic iron index as a diagnostic criterion in genetic hemochromatosis J Lab Clin Med 130 1997 509 514
77. GD LeSage WP Baldus VF Fairbanks AH Baggenstoss JT McCall SB Moore HF Taswell H. Gordon Hemochromatosis: genetic or alcohol-induced? Gastroenterology 84 1983 1471 1477
78. RW Chapman MY Morgan M Laulicht AV Hoffbrand S. Sherlock Hepatic iron stores and markers of iron overload in alcoholics and patients with idiopathic hemochromatosis Digest Dis Sci 27 1982 909 916
79. J Grove AK Daly AD Burt M Guzail OFW James MF Bassendine CP. Day Heterozygotes for HFE mutations have no increased risk of advanced alcoholic liver disease Gut 43 1998 262 266
80. BR Bacon MJ Farahvash CG Janney BA. Neuschwander-Tetri Nonalcoholic steatohepatitis: an expanded clinical entity Gastroenterology 107 1994 1103 1109
81. DK George S Goldwurm GA Macdonald LL Cowley NI Walker PJ Ward EC Jazwinska LW. Powell Increased hepatic iron concentration in non-alcoholic steatohepatitis is associated with increased fibrosis Gastroenterology 114 1998 311 318
82. O Jawaid P Leclair K Tortorelli J Cobb R Lambrecht H. Bonkovsky Non-alcoholic steatohepatitis (NASH) and hereditary hemochromatosis (HHC) (abstr) Gastroenterology 114 1998 A1264
83. JK Olynyk KR Reddy AM Di Bisceglie LJ Jeffers TI Parker JL Radick ER Schiff BR. Bacon Hepatic iron concentration as a predictor of response to interferon alfa therapy in chronic hepatitis C Gastroenterology 108 1995 1104 1109
84. H Hayashi T Takikawa N Nishimura M Yano T Isomura N. Sakamoto Improvement of serum aminotransferase levels after phlebotomy in patients with chronic active hepatitis C and excess hepatic iron Am J Gastroenterol 89 1994 986 988
85. BR Bacon AE Rebholz M Fried AM. Di Bisceglie Beneficial effect of iron reduction therapy in patients with chronic hepatitis C who failed to respond to interferon-α (abstr) Hepatology 18 1993 90A
86. AM Di Bisceglie SE Bassett BR Bacon RE. Lanford Effect of dietary iron loading in chimpanzees with chronic hepatitis C virus infection (abstr) Gastroenterology 114 1998 A1234
87. DH Van Thiel L Friedlander S Fagiuoli HI Wright W Irish JS. Gavaler Response to interferon α therapy is influenced by the iron content of the liver J Hepatol 20 1994 410 415
88. BC Smith J Grove MA Guzail CP Day AK Daly AD Burt MF. Bassendine Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C Hepatology 27 1998 1695 1699
89. S Barrett G Callagy E Ryan JC O'Keane P Mac Mathuna J. Crowe The C282Y mutation is not a significant cofactor for more severe liver disease in a cohort of Irish hepatitis C patients (abstr) Gastroenterology 114 1998 A1209
90. AG Roberts SD Whatley RR Morgan M Worwood GH. Elder Increased frequency of the haemochromatosis Cys282-Tyr mutation in sporadic porphyria cutanea tarda Lancet 349 1997 321 323
91. KA Stuart F Busfield EC Jazwinska P Gibson LA Butterworth WG Cooksley LW Powell DHG. Crawford The C282Y mutation in the haemochromatosis gene (HFE) and hepatitis C virus infection are independent cofactors for porphyria cutanea tarda in Australian patients J Hepatol 28 1998 404 409
92. M Sampietro A Piperno L Lupica C Arosio A Vergani N Corbetta I Malosio M Mattioli AL Fracanzani MD Cappellini G Fiorelli S. Fargion High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda Hepatology 27 1998 181 184
93. HL Bonkovsky M Poh-Fitzpatrick N Pimstone J Obando A Di Bisceglie C Tattrie K Tortorelli P LeClair MG Mercurio RW. Lambrecht Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America Hepatology 27 1998 1661 1669
94. BR. Bacon Diagnosis and management of hemochromatosis Gastroenterology 113 1997 995 999
95. PC. Adams Factors affecting rate of iron mobilization during venesection therapy for genetic hemochromatosis Am J Hematol 58 1998 16 19
96. C Niederau R Fischer A Sonnenberg W Stremmel HJ Trampisch G. Strohmeyer Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis N Engl J Med 313 1985 1256 1262
97. PC Adams M Speechley AE. Kertesz Long-term survival analysis in hereditary hemochromatosis Gastroenterology 101 1991 368 372
98. S Fargion C Mandelli A Piperno B Cesana AL Fracanzani M Fraquelli PA Bianchi G Fiorelli D. Conte Survival and prognostic factors in 212 Italian patients with genetic hemochromatosis Hepatology 15 1992 655 659
99. D Guyader C Jacquelinet R Moirand B Turlin MH Mendler J Chaperon V David P Brissot P Adams Y. Deugnier Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis Gastroenterology 115 1998 929 936
100. PC Adams AE Kertesz LS. Valberg Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis: implications for venesection therapy J Clin Gastroenterol 16 1993 207 210
101. PC. Adams Implications of genotyping of spouses to limit investigation in children in genetic hemochromatosis Clin Genet 53 1998 176 178