Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation

Gastroenterology

Volumn 114, Issue 5, 1998, Pages 1003-1008

  Crawford, D H G ^a   Jazwinska, E C ^a   Cullen, L M ^a   Powell, L W ^a  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; FERRITIN; HLA ANTIGEN; IRON; TRANSFERRIN; TYROSINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CONTROLLED STUDY; FEMALE; GENE MUTATION; HEMOCHROMATOSIS; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; IRON OVERLOAD; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL;

EID: 0031969395     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0016-5085(98)70320-8     Document Type: Article

References (23)

1. 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
2. BA Leggett JW Halliday NN Brown S Bryant LW Powell Prevalence of haemochromatosis amongst asymptomatic Australians Br J Haematol 74 1990 525 530
3. LW Powell E Jazwinska JW Halliday Primary iron overload JH Brock JW Halliday MJ Pippard LW Powell Iron metabolism in health and disease 1994 Saunders Philadelphia 227 270
4. JN Feder A Gnirke W Thomas Z Tsuchihashi DA Ruddy A Basava F Dormishlan R Domingo 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 Morlkang CE Prass L Quintana SM Starnes RC Schatzman KJ Brunke DT Drayna NJ Risch Br Bacon RK Wolff A novel MHC class 1-like gene is mutated in patients with hereditary haemochromatosis Nat Genet 13 1996 399 408
5. 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
6. AM Jouanolle G Gandon P Jézéquel M Blayau ML Campion J Yaouanq J Mosser P Fergelot B Chauvel P Bouric G Carn N Andrieux I Gicquel J-Y Le Gall V David Haemochromatosis and HLA-H Nat Genet 14 1996 251 252
7. E Beutler Genetic irony beyond haemochromatosis: clinical effect of HLA-H mutations Lancet 349 1997 296 297
8. KM Summers KS Tam JW Halliday LW Powell HLA determinants in an Australian population of hemochromatosis patients and their families Am J Hum Genet 45 1989 41 48
9. ML Bassett JW Halliday LW Powell HLA typing in idiopathic hemochromatosis: distinction between homozygotes and heterozygotes with biochemical expression Hepatology 1 1981 120 126
10. ML Bassett JW Halliday LW Powell Value of hepatic iron measurement in early hemochromatosis and determination of the critical iron level associated with fibrosis Hepatology 6 1986 24 29
11. KM Summers JW Halliday LW Powell Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index Hepatology 12 1990 20 25
12. PJ Scheuer R Williams AR Muir Hepatic pathology in relatives of patients with haemochromatosis J Pathol Bacteriol 84 1962 53 64
13. KW Perkins IWS McInnes CRB Blackburn RW Beal Idiopathic hemochromatosis in children. Report of a family Am J Med 39 1965 118 126
14. DHG Crawford LW Powell BA Leggett JS Francis LM Fletcher SI Webb JW Halliday EC Jazwinska Evidence that the ancestral haplotype in Australian hemochromatosis patients may be associated with a common mutation in the gene Am J Hum Genet 57 1995 362 367
15. ZJ Bulaj LM Griffen LB Jorde CQ Edwards JP Kushner Clinical and biochemical abnormalities in people heterozygous for hemochromatosis N Engl J Med 1996 1799 1805
16. LW Powell The role of alcoholism in hepatic iron storage disease Ann N Y Acad Sci 252 1975 124 134
17. A Piperno C Arosio S Fargion A Roetto C Nicoli D Girelli L Sbaizi B Gasparini G Boari M Sampietro C Camaschella The ancestral hemochromatosis haplotype is associated with a severe phenotype expression in Italian patients Hepatology 24 1996 43 46
18. DHG Crawford JW Halliday KM Summers MJ Bourke LW Powell Concordance of iron storage in siblings with genetic hemochromatosis: evidence for a predominantly genetic effect on iron storage Hepatology 17 1993 833 837
19. 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
20. CE McLaren VR Gordeuk AC Looker V Hasselblad CQ Edwards LM Griffen JP Kushner GM Brittenham Prevalence of heterozygotes for hemochromatosis in the white population of the United States Blood 86 1995 2021 2027
21. DK George DHG Crawford LW Powell Liver function tests and liver damage in haemochromatosis (abstr) Gut 40 Suppl 1 1997 A13
22. DM Baer MD James 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
23. ML Bassett BA Leggett JW Halliday SI Webb LW Powell Analysis of the cost of population screening for haemochromatosis using biochemical and genetic markers J Hepatol 27 1997 517 523