The Clinical Relevance of Compound Heterozygosity for the C282Y and H63D Substitutions in Hemochromatosis

Clinical Gastroenterology and Hepatology - Tập 4 - Trang 1403-1410 - 2006
Alissa Walsh1, Jeannette L. Dixon2, Grant A. Ramm2, David G. Hewett1, Douglas J. Lincoln2, Gregory J. Anderson2, V. Nathan Subramaniam2, Julian Dodemaide2, Juleen A. Cavanaugh3, Mark L. Bassett3, Lawrie W. Powell1,2
1The Department of Gastroenterology & Hepatology, Royal Brisbane & Women’s Hospital, Brisbane, Australia
2The Queensland Institute of Medical Research, Brisbane, Australia
3Department of Gastroenterology, The Canberra Hospital, Canberra, Australia

Tài liệu tham khảo

Niederau, 1985, Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis, N Engl J Med, 313, 1256, 10.1056/NEJM198511143132004 Niederau, 1996, Long-term survival in patients with hereditary hemochromatosis, Gastroenterology, 110, 1107, 10.1053/gast.1996.v110.pm8613000 Bacon, 1999, Molecular medicine and hemochromatosis: at the crossroads, Gastroenterology, 116, 193, 10.1016/S0016-5085(99)70244-1 Olynyk, 1999, A population-based study of the clinical expression of the hemochromatosis gene, N Engl J Med, 341, 718, 10.1056/NEJM199909023411002 Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat Genet, 13, 399, 10.1038/ng0896-399 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 Bacon, 1999, HFE genotype in patients with hemochromatosis and other liver diseases, Ann Intern Med, 130, 953, 10.7326/0003-4819-130-12-199906150-00002 Brissot, 1999, A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria, J Hepatol, 30, 588, 10.1016/S0168-8278(99)80188-3 Tavill, 2001, Diagnosis and management of hemochromatosis, Hepatology, 33, 1321, 10.1053/jhep.2001.24783 Beutler, 1997, The significance of the 187G (H63D) mutation in hemochromatosis, Am J Hum Genet, 61, 762, 10.1016/S0002-9297(07)64339-0 Crawford, 1998, Expression of HLA-linked hemochromatosis in subjects homozygous or heterozygous for the C282Y mutation, Gastroenterology, 114, 1003, 10.1016/S0016-5085(98)70320-8 Phatak, 2002, Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients, Blood Cells Mol Dis, 29, 41, 10.1006/bcmd.2002.0536 Moirand, 1999, Phenotypic expression of HFE mutations: a French study of 1110 unrelated iron-overloaded patients and relatives, Gastroenterology, 116, 372, 10.1016/S0016-5085(99)70134-4 Beutler, 1996, Mutation analysis in hereditary hemochromatosis, Blood Cells Mol Dis, 22, 187, 10.1006/bcmd.1996.0027 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 Leggett, 1990, Prevalence of haemochromatosis amongst asymptomatic Australians, Br J Haematol, 74, 525, 10.1111/j.1365-2141.1990.tb06345.x Fletcher, 2002, Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis, Gastroenterology, 122, 281, 10.1053/gast.2002.30992 Jazwinska, 1996, Haemochromatosis and HLA-H, Nat Genet, 14, 249, 10.1038/ng1196-249 Bassett, 1986, Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis, Hepatology, 6, 24, 10.1002/hep.1840060106 Leggett, 1990, Factors affecting the concentrations of ferritin in serum in a healthy Australian population, Clin Chem, 36, 1350, 10.1093/clinchem/36.7.1350 Searle, 1987 Scheuer, 1991, Classification of chronic viral hepatitis: a need for reassessment, J Hepatol, 13, 372, 10.1016/0168-8278(91)90084-O Adams, 2001, Is there a threshold of hepatic iron concentration that leads to cirrhosis in C282Y hemochromatosis?, Am J Gastroenterol, 96, 567, 10.1111/j.1572-0241.2001.03472.x Adams, 2005, Hemochromatosis and iron-overload screening in a racially diverse population, N Engl J Med, 352, 1769, 10.1056/NEJMoa041534 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 Schoniger-Hekele, 2002, Liver pathology in compound heterozygous patients for hemochromatosis mutations, Liver, 22, 295, 10.1034/j.1600-0676.2002.01597.x Angulo, 1999, Independent predictors of liver fibrosis in patients with nonalcoholic steatohepatitis, Hepatology, 30, 1356, 10.1002/hep.510300604 Moirand, 2002, HFE based re-evaluation of heterozygous hemochromatosis, Am J Med Genet, 111, 356, 10.1002/ajmg.10547 Mendler, 1999, Insulin resistance-associated hepatic iron overload, Gastroenterology, 117, 1155, 10.1016/S0016-5085(99)70401-4 Beutler, 2002, Penetrance of 845G - A (C282Y) HFE hereditary haemochromatosis mutation in the USA, Lancet, 359, 211, 10.1016/S0140-6736(02)07447-0 Lim, 2004, Hepatic iron loading in patients with compound heterozygous HFE mutations, Liver Int, 24, 631, 10.1111/j.1478-3231.2004.0953.x George, 1998, Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis, Gastroenterology, 114, 311, 10.1016/S0016-5085(98)70482-2 Bonkovsky, 1999, Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis, J Hepatol, 31, 421, 10.1016/S0168-8278(99)80032-4 Tung, 2003, Hepatitis C, iron status, and disease severity: relationship with HFE mutations, Gastroenterology, 124, 318, 10.1053/gast.2003.50046 Sullivan, 2001, Hereditary haemochromatosis and the hypothesis that iron depletion protects against ischemic heart disease, Eur J Clin Invest, 31, 375, 10.1046/j.1365-2362.2001.00830.x Nelson, 2001, Iron and colorectal cancer risk: human studies, Nutr Rev, 59, 140, 10.1111/j.1753-4887.2001.tb07002.x Nelson, 1995, Risk of neoplastic and other diseases among people with heterozygosity for hereditary hemochromatosis, Cancer, 76, 875, 10.1002/1097-0142(19950901)76:5<875::AID-CNCR2820760523>3.0.CO;2-Q McCune, 2006, Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients, Gut, 55, 554, 10.1136/gut.2005.070342