EASL Clinical Practice Guidelines

References

[1]Feder, J.N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D.A., Basava, A. et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996; 13: 399408
CrossRef | PubMed | Scopus (2567)

[2]Guyatt, G.H., Oxman, A.D., Vist, G.E., Kunz, R., Falck-Ytter, Y., Alonso-Coello, P. et al. GRADE: an emerging consensus on rating quality of evidence and strength of recommendations. BMJ. 2008; 336: 924926
CrossRef | PubMed

[3]Guyatt, G.H., Oxman, A.D., Kunz, R., Vist, G.E., Falck-Ytter, Y., and Schunemann, H.J. What is quality of evidence and why is it important to clinicians?. BMJ. 2008; 336: 995998
CrossRef | PubMed

[4]Guyatt, G.H., Oxman, A.D., Kunz, R., Jaeschke, R., Helfand, M., Liberati, A. et al. Incorporating considerations of resources use into grading recommendations. BMJ. 2008; 336: 11701173
CrossRef | PubMed

[5]Guyatt, G.H., Oxman, A.D., Kunz, R., Falck-Ytter, Y., Vist, G.E., Liberati, A. et al. Going from evidence to recommendations. BMJ. 2008; 336: 10491051
CrossRef | PubMed

[6]Atkins, D., Best, D., Briss, P.A., Eccles, M., Falck-Ytter, Y., Flottorp, S. et al. Grading quality of evidence and strength of recommendations. BMJ. 2004; 328: 1490
CrossRef | PubMed

[7]Beckman, L.E., Saha, N., Spitsyn, V., Van Landeghem, G., and Beckman, L. Ethnic differences in the HFE codon 282 (Cys/Tyr) polymorphism. Hum Hered. 1997; 47: 263267
CrossRef | PubMed

[8]Merryweather-Clarke, A.T., Pointon, J.J., Shearman, J.D., and Robson, K.J. Global prevalence of putative haemochromatosis mutations. J Med Genet. 1997; 34: 275278
CrossRef | PubMed

[9]Datz, C., Lalloz, M.R., Vogel, W., Graziadei, I., Hackl, F., Vautier, G. et al. Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis. J Hepatol. 1997; 27: 773779
PubMed | Scopus (71)

[10]Burt, M.J., George, P.M., Upton, J.D., Collett, J.A., Frampton, C.M., Chapman, T.M. et al. The significance of haemochromatosis gene mutations in the general population: implications for screening. Gut. 1998; 43: 830836
CrossRef | PubMed

[11]Jouanolle, A.M., Fergelot, P., Raoul, M.L., Gandon, G., Roussey, M., Deugnier, Y. et al. Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?. Ann Genet. 1998; 41: 195198
PubMed

[12]Merryweather-Clarke, A.T., Simonsen, H., Shearman, J.D., Pointon, J.J., Norgaard-Pedersen, B., and Robson, K.J. A retrospective anonymous pilot study in screening newborns for HFE mutations in Scandinavian populations. Hum Mutat. 1999; 13: 154159
CrossRef | PubMed | Scopus (44)

[13]Distante, S., Berg, J.P., Lande, K., Haug, E., and Bell, H. High prevalence of the hemochromatosis-associated Cys282Tyr HFE gene mutation in a healthy Norwegian population in the city of Oslo, and its phenotypic expression. Scand J Gastroenterol. 1999; 34: 529534
CrossRef | PubMed | Scopus (60)

[14]Olynyk, J.K., Cullen, D.J., Aquilia, S., Rossi, E., Summerville, L., and Powell, L.W. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999; 341: 718724
CrossRef | PubMed | Scopus (529)

[15]Marshall, D.S., Linfert, D.R., and Tsongalis, G.J. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population. Int J Mol Med. 1999; 4: 389393
PubMed

[16]Beutler, E., Felitti, V., Gelbart, T., and Ho, N. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic. Ann Intern Med. 2000; 133: 329337
CrossRef | PubMed

[17]Steinberg, K.K., Cogswell, M.E., Chang, J.C., Caudill, S.P., McQuillan, G.M., Bowman, B.A. et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA. 2001; 285: 22162222
CrossRef | PubMed

[18]Andrikovics, H., Kalmar, L., Bors, A., Fandl, B., Petri, I., Kalasz, L. et al. Genotype screening for hereditary hemochromatosis among voluntary blood donors in Hungary. Blood Cells Mol Dis. 2001; 27: 334341
CrossRef | PubMed | Scopus (13)

[19]Pozzato, G., Zorat, F., Nascimben, F., Gregorutti, M., Comar, C., Baracetti, S. et al. Haemochromatosis gene mutations in a clustered Italian population: evidence of high prevalence in people of Celtic ancestry. Eur J Hum Genet. 2001; 9: 445451
CrossRef | PubMed | Scopus (19)

[20]Byrnes, V., Ryan, E., Barrett, S., Kenny, P., Mayne, P., and Crowe, J. Genetic hemochromatosis, a Celtic disease: is it now time for population screening?. Genet Test. 2001; 5: 127130
CrossRef | PubMed

[21]Beutler, E., Felitti, V.J., Koziol, J.A., Ho, N.J., and Gelbart, T. Penetrance of 845G → A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002; 359: 211218
Abstract | Full Text | Full Text PDF | PubMed | Scopus (528)

[22]Guix, P., Picornell, A., Parera, M., Galmes, A., Obrador, A., Ramon, M.M. et al. Distribution of HFE C282Y and H63D mutations in the Balearic Islands (NE Spain). Clin Genet. 2002; 61: 4348
CrossRef | PubMed | Scopus (17)

[23]Deugnier, Y., Jouanolle, A.M., Chaperon, J., Moirand, R., Pithois, C., Meyer, J.F. et al. Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol. 2002; 118: 11701178
CrossRef | PubMed | Scopus (59)

[24]Cimburova, M., Putova, I., Provaznikova, H., and Horak, J. Hereditary hemochromatosis: detection of C282Y and H63D mutations in HFE gene by means of guthrie cards in population of Czech Republic. Genet Epidemiol. 2002; 23: 260263
CrossRef | PubMed | Scopus (14)

[25]Van Aken, M.O., De Craen, A.J., Gussekloo, J., Moghaddam, P.H., Vandenbroucke, J.P., Heijmans, B.T. et al. No increase in mortality and morbidity among carriers of the C282Y mutation of the hereditary haemochromatosis gene in the oldest old: the Leiden 85-plus study. Eur J Clin Invest. 2002; 32: 750754
CrossRef | PubMed | Scopus (30)

[26]Phatak, P.D., Ryan, D.H., Cappuccio, J., Oakes, D., Braggins, C., Provenzano, K. et al. Prevalence and penetrance of HFE mutations in 4865 unselected primary care patients. Blood Cells Mol Dis. 2002; 29: 4147
CrossRef | PubMed

[27]Jones, D.C., Young, N.T., Pigott, C., Fuggle, S.V., Barnardo, M.C., Marshall, S.E. et al. Comprehensive hereditary hemochromatosis genotyping. Tissue Antigens. 2002; 60: 481488
CrossRef | PubMed | Scopus (15)

[28]Candore, G., Mantovani, V., Balistreri, C.R., Lio, D., Colonna-Romano, G., Cerreta, V. et al. Frequency of the HFE gene mutations in five Italian populations. Blood Cells Mol Dis. 2002; 29: 267273
CrossRef | PubMed | Scopus (26)

[29]Salvioni, A., Mariani, R., Oberkanins, C., Moritz, A., Mauri, V., Pelucchi, S. et al. Prevalence of C282Y and E168X HFE mutations in an Italian population of Northern European ancestry. Haematologica. 2003; 88: 250255
PubMed

[30]Papazoglou, D., Exiara, T., Speletas, M., Panagopoulos, I., and Maltezos, E. Prevalence of hemochromatosis gene (HFE) mutations in Greece. Acta Haematol. 2003; 109: 137140
CrossRef | PubMed | Scopus (11)

[31]Sanchez, M., Villa, M., Ingelmo, M., Sanz, C., Bruguera, M., Ascaso, C. et al. Population screening for hemochromatosis: a study in 5370 Spanish blood donors. J Hepatol. 2003; 38: 745750
PubMed | Scopus (25)

[32]Mariani, R., Salvioni, A., Corengia, C., Erba, N., Lanzafame, C., De Micheli, V. et al. Prevalence of HFE mutations in upper Northern Italy: study of 1132 unrelated blood donors. Dig Liver Dis. 2003; 35: 479481
PubMed | Scopus (15)

[33]Altes, A., Ruiz, A., Barcelo, M.J., Remacha, A.F., Puig, T., Maya, A.J. et al. Prevalence of the C282Y, H63D, and S65C mutations of the HFE gene in 1146 newborns from a region of Northern Spain. Genet Test. 2004; 8: 407410
CrossRef | PubMed | Scopus (24)

[34]Adams, P.C., Reboussin, D.M., Barton, J.C., McLaren, C.E., Eckfeldt, J.H., McLaren, G.D. et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005; 352: 17691778
CrossRef | PubMed | Scopus (290)

[35]Barry, E., Derhammer, T., and Elsea, S.H. Prevalence of three hereditary hemochromatosis mutant alleles in the Michigan Caucasian population. Community Genet. 2005; 8: 173179
CrossRef | PubMed | Scopus (11)

[36]Meier, P., Schuff-Werner, P., and Steiner, M. Hemochromatosis gene HFE Cys282Tyr mutation analysis in a cohort of Northeast German hospitalized patients supports assumption of a North to South allele frequency gradient throughout Germany. Clin Lab. 2005; 51: 539543
PubMed

[37]Matas, M., Guix, P., Castro, J.A., Parera, M., Ramon, M.M., Obrador, A. et al. Prevalence of HFE C282Y and H63D in Jewish populations and clinical implications of H63D homozygosity. Clin Genet. 2006; 69: 155162
CrossRef | PubMed | Scopus (9)

[38]Hoppe, C., Watson, R.M., Long, C.M., Lorey, F., Robles, L., Klitz, W. et al. Prevalence of HFE mutations in California newborns. Pediatr Hematol Oncol. 2006; 23: 507516
CrossRef | PubMed | Scopus (4)

[39]Aranda, N., Viteri, F.E., Fernandez-Ballart, J., Murphy, M., and Arija, V. Frequency of the hemochromatosis gene (HFE) 282C → Y, 63H → D, and 65S → C mutations in a general Mediterranean population from Tarragona, Spain. Ann Hematol. 2007; 86: 1721
CrossRef | PubMed | Scopus (5)

[40]Terzic, R., Sehic, A., Teran, N., Terzic, I., and Peterlin, B. Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina. Coll Antropol. 2006; 30: 555557
PubMed

[41]Floreani, A., Rosa Rizzotto, E., Basso, D., Navaglia, F., Zaninotto, M., Petridis, I. et al. An open population screening study for HFE gene major mutations proves the low prevalence of C282Y mutation in Central Italy. Aliment Pharmacol Ther. 2007; 26: 577586
CrossRef | PubMed | Scopus (10)

[42]Raszeja-Wyszomirska, J., Kurzawski, G., Suchy, J., Zawada, I., Lubinski, J., and Milkiewicz, P. Frequency of mutations related to hereditary haemochromatosis in northwestern Poland. J Appl Genet. 2008; 49: 105107
CrossRef | PubMed

[43]Jazwinska, E.C., Cullen, L.M., Busfield, F., Pyper, W.R., Webb, S.I., Powell, L.W. et al. Haemochromatosis and HLA-H. Nat Genet. 1996; 14: 249251
CrossRef | PubMed

[44]Jouanolle, A.M., Gandon, G., Jezequel, P., Blayau, M., Campion, M.L., Yaouanq, J. et al. Haemochromatosis and HLA-H. Nat Genet. 1996; 14: 251252
CrossRef | PubMed

[45]Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R. et al. Mutation analysis in hereditary hemochromatosis. Blood Cells Mol Dis. 1996; 22: 187194 (discussion 194a194b)
CrossRef | PubMed | Scopus (336)

[46]Borot, N., Roth, M., Malfroy, L., Demangel, C., Vinel, J.P., Pascal, J.P. et al. Mutations in the MHC class I-like candidate gene for hemochromatosis in French patients. Immunogenetics. 1997; 45: 320324
CrossRef | PubMed | Scopus (129)

[47]Carella, M., DAmbrosio, L., Totaro, A., Grifa, A., Valentino, M.A., Piperno, A. et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet. 1997; 60: 828832
PubMed

[48]Willis, G., Jennings, B.A., Goodman, E., Fellows, I.W., and Wimperis, J.Z. A high prevalence of HLA-H 845A mutations in hemochromatosis patients and the normal population in eastern England. Blood Cells Mol Dis. 1997; 23: 288291
CrossRef | PubMed | Scopus (52)

[49]The UK Haemochromatosis Consortium. A simple genetic test identifies 90% of UK patients with haemochromatosis. Gut 1997;41(6):8414.

[50]Press, R.D., Flora, K., Gross, C., Rabkin, J.M., and Corless, C.L. Hepatic iron overload: direct HFE (HLA-H) mutation analysis vs quantitative iron assays for the diagnosis of hereditary hemochromatosis. Am J Clin Pathol. 1998; 109: 577584
PubMed

[51]Cardoso, E.M., Stal, P., Hagen, K., Cabeda, J.M., Esin, S., de Sousa, M. et al. HFE mutations in patients with hereditary haemochromatosis in Sweden. J Intern Med. 1998; 243: 203208
CrossRef | PubMed | Scopus (84)

[52]Sanchez, M., Bruguera, M., Bosch, J., Rodes, J., Ballesta, F., and Oliva, R. Prevalence of the Cys282Tyr and His63Asp HFE gene mutations in Spanish patients with hereditary hemochromatosis and in controls. J Hepatol. 1998; 29: 725728
PubMed | Scopus (83)

[53]Ryan, E., OKeane, C., and Crowe, J. Hemochromatosis in Ireland and HFE. Blood Cells Mol Dis. 1998; 24: 428432
CrossRef | PubMed | Scopus (85)

[54]Nielsen, P., Carpinteiro, S., Fischer, R., Cabeda, J.M., Porto, G., and Gabbe, E.E. Prevalence of the C282Y and H63D mutations in the HFE gene in patients with hereditary haemochromatosis and in control subjects from Northern Germany. Br J Haematol. 1998; 103: 842845
CrossRef | PubMed | Scopus (62)

[55]Murphy, S., Curran, M.D., McDougall, N., Callender, M.E., OBrien, C.J., and Middleton, D. High incidence of the Cys 282 Tyr mutation in the HFE gene in the Irish population implications for haemochromatosis. Tissue Antigens. 1998; 52: 484488
CrossRef | PubMed

[56]Mura, C., Raguenes, O., and Ferec, C. HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis. Blood. 1999; 93: 25022505
PubMed

[57]Brissot, P., Moirand, R., Jouanolle, A.M., Guyader, D., Le Gall, J.Y., Deugnier, Y. et al. A genotypic study of 217 unrelated probands diagnosed as genetic hemochromatosis on classical phenotypic criteria. J Hepatol. 1999; 30: 588593
PubMed | Scopus (70)

[58]Bacon, B.R., Olynyk, J.K., Brunt, E.M., Britton, R.S., and Wolff, R.K. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med. 1999; 130: 953962
CrossRef | PubMed

[59]Brandhagen, D.J., Alvarez, W., Therneau, T.M., Kruckeberg, K.E., Thibodeau, S.N., Ludwig, J. et al. Iron overload in cirrhosis-HFE genotypes and outcome after liver transplantation. Hepatology. 2000; 31: 456460
CrossRef | PubMed

[60]Rivard, S.R., Mura, C., Simard, H., Simard, R., Grimard, D., Le Gac, G. et al. Mutation analysis in the HFE gene in patients with hereditary haemochromatosis in Saguenay-Lac-Saint-Jean (Quebec, Canada). Br J Haematol. 2000; 108: 854858
CrossRef | PubMed | Scopus (9)

[61]Papanikolaou, G., Politou, M., Terpos, E., Fourlemadis, S., Sakellaropoulos, N., and Loukopoulos, D. Hereditary hemochromatosis: HFE mutation analysis in Greeks reveals genetic heterogeneity. Blood Cells Mol Dis. 2000; 26: 163168
CrossRef | PubMed | Scopus (54)

[62]Guix, P., Picornell, A., Parera, M., Tomas, C., Muncunill, J., Castro, J.A. et al. Prevalence of the C282Y mutation for haemochromatosis on the Island of Majorca. Clin Genet. 2000; 58: 123128
CrossRef | PubMed

[63]Brandhagen, D.J., Fairbanks, V.F., Baldus, W.P., Smith, C.I., Kruckeberg, K.E., Schaid, D.J. et al. Prevalence and clinical significance of HFE gene mutations in patients with iron overload. Am J Gastroenterol. 2000; 95: 29102914
CrossRef | PubMed

[64]Sham, R.L., Raubertas, R.F., Braggins, C., Cappuccio, J., Gallagher, M., and Phatak, P.D. Asymptomatic hemochromatosis subjects: genotypic and phenotypic profiles. Blood. 2000; 96: 37073711
PubMed

[65]Van Vlierberghe, H., Messiaen, L., Hautekeete, M., De Paepe, A., and Elewaut, A. Prevalence of the Cys282Tyr and His63Asp mutation in Flemish patients with hereditary hemochromatosis. Acta Gastroenterol Belg. 2000; 63: 250253
PubMed

[66]Bell, H., Berg, J.P., Undlien, D.E., Distante, S., Raknerud, N., Heier, H.E. et al. The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects. Scand J Gastroenterol. 2000; 35: 13011307
CrossRef | PubMed | Scopus (18)

[67]Hellerbrand, C., Bosserhoff, A.K., Seegers, S., Lingner, G., Wrede, C., Lock, G. et al. Mutation analysis of the HFE gene in German hemochromatosis patients and controls using automated SSCP-based capillary electrophoresis and a new PCRELISA technique. Scand J Gastroenterol. 2001; 36: 12111216
CrossRef | PubMed | Scopus (15)

[68]de Juan, D., Reta, A., Castiella, A., Pozueta, J., Prada, A., and Cuadrado, E. HFE gene mutations analysis in Basque hereditary haemochromatosis patients and controls. Eur J Hum Genet. 2001; 9: 961964
CrossRef | PubMed | Scopus (40)

[69]De Marco, F., Liguori, R., Giardina, M.G., DArmiento, M., Angelucci, E., Lucariello, A. et al. High prevalence of non-HFE gene-associated haemochromatosis in patients from southern Italy. Clin Chem Lab Med. 2004; 42: 1724
CrossRef | PubMed | Scopus (8)

[70]Bauduer, F., Scribans, C., Degioanni, A., Renoux, M., and Dutour, O. Distribution of the C282Y and H63D polymorphisms in hereditary hemochromatosis patients from the French Basque Country. Ann Hematol. 2005; 84: 99102
CrossRef | PubMed | Scopus (15)

[71]Cukjati, M., Vaupotic, T., Rupreht, R., and Curin-Serbec, V. Prevalence of H63D, S65C and C282Y hereditary hemochromatosis gene mutations in Slovenian population by an improved high-throughput genotyping assay. BMC Med Genet. 2007; 8: 69
CrossRef | PubMed | Scopus (11)

[72]Walsh, A., Dixon, J.L., Ramm, G.A., Hewett, D.G., Lincoln, D.J., Anderson, G.J. et al. The clinical relevance of compound heterozygosity for the C282Y and H63D substitutions in hemochromatosis. Clin Gastroenterol Hepatol. 2006; 4: 14031410
PubMed | Scopus (32)

[73]Rossi, E., Olynyk, J.K., Cullen, D.J., Papadopoulos, G., Bulsara, M., Summerville, L. et al. Compound heterozygous hemochromatosis genotype predicts increased iron and erythrocyte indices in women. Clin Chem. 2000; 46: 162166
PubMed

[74]Lim, E.M., Rossi, E., De-Boer, W.B., Reed, W.D., and Jeffrey, G.P. Hepatic iron loading in patients with compound heterozygous HFE mutations. Liver Int. 2004; 24: 631636
CrossRef | PubMed | Scopus (10)

[75]Cadet, E., Capron, D., Perez, A.S., Crepin, S.N., Arlot, S., Ducroix, J.P. et al. A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med. 2003; 253: 217224
CrossRef | PubMed | Scopus (18)

[76]Swinkels, D.W., Aalbers, N., Elving, L.D., Bleijenberg, G., Swanink, C.M., and van der Meer, J.W. Primary haemochromatosis: a missed cause of chronic fatigue syndrome?. Neth J Med. 2002; 60: 429433
PubMed

[77]Vital Durand, D., Francois, S., Nove-Josserand, R., Durupt, S., Durieu, I., Morel, Y. et al. [Haemochromatosis screening in 120 patients complaining with persistent fatigue]. Rev Med Interne. 2004; 25: 623628
CrossRef | PubMed | Scopus (2)

[78]Willis, G., Scott, D.G., Jennings, B.A., Smith, K., Bukhari, M., and Wimperis, J.Z. HFE mutations in an inflammatory arthritis population. Rheumatology (Oxford). 2002; 41: 176179
CrossRef | PubMed

[79]Li, J., Zhu, Y., and Singal, D.P. HFE gene mutations in patients with rheumatoid arthritis. J Rheumatol. 2000; 27: 20742077
PubMed

[80]Rovetta, G., Grignolo, M.C., Buffrini, L., and Monteforte, P. Prevalence of C282Y mutation in patients with rheumatoid arthritis and spondylarthritis. Int J Tissue React. 2002; 24: 105109
PubMed

[81]Timms, A.E., Sathananthan, R., Bradbury, L., Athanasou, N.A., Wordsworth, B.P., and Brown, M.A. Genetic testing for haemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis. 2002; 61: 745747
CrossRef | PubMed | Scopus (22)

[82]Carroll, G.J. Primary osteoarthritis in the ankle joint is associated with finger metacarpophalangeal osteoarthritis and the H63D mutation in the HFE gene: evidence for a hemochromatosis-like polyarticular osteoarthritis phenotype. J Clin Rheumatol. 2006; 12: 109113
CrossRef | PubMed | Scopus (7)

[83]Cauza, E., Hanusch-Enserer, U., Bischof, M., Spak, M., Kostner, K., Tammaa, A. et al. Increased C282Y heterozygosity in gestational diabetes. Fetal Diagn Ther. 2005; 20: 349354
CrossRef | PubMed | Scopus (6)

[84]Acton, R.T., Barton, J.C., Passmore, L.V., Adams, P.C., Speechley, M.R., Dawkins, F.W. et al. Relationships of serum ferritin, transferrin saturation, and HFE mutations and self-reported diabetes in the Hemochromatosis and Iron Overload Screening (HEIRS) study. Diabetes Care. 2006; 29: 20842089
CrossRef | PubMed | Scopus (31)

[85]Hahn, J.U., Steiner, M., Bochnig, S., Schmidt, H., Schuff-Werner, P., and Kerner, W. Evaluation of a diagnostic algorithm for hereditary hemochromatosis in 3500 patients with diabetes. Diabetes Care. 2006; 29: 464466
CrossRef | PubMed

[86]Frayling, T., Ellard, S., Grove, J., Walker, M., and Hattersley, A.T. C282Y mutation in HFE (haemochromatosis) gene and type 2 diabetes. Lancet. 1998; 351: 19331934
Abstract | Full Text | Full Text PDF | PubMed

[87]Davis, T.M., Beilby, J., Davis, W.A., Olynyk, J.K., Jeffrey, G.P., Rossi, E. et al. Prevalence, characteristics and prognostic significance of HFE gene mutations in type 2 diabetes: The Fremantle Diabetes Study. Diabetes Care. 2008; 31: 17951801
CrossRef | PubMed | Scopus (8)

[88]Habeos, I.G., Psyrogiannis, A., Kyriazopoulou, V., Psilopanagiotou, A., Papavassiliou, A.G., and Vagenakis, A.G. The role of Hemochromatosis C282Y and H63D mutations in the development of type 2 diabetes mellitus in Greece. Hormones (Athens). 2003; 2: 5560
PubMed

[89]Qi, L., Meigs, J., Manson, J.E., Ma, J., Hunter, D., Rifai, N. et al. HFE genetic variability, body iron stores, and the risk of type 2 diabetes in U.S. women. Diabetes. 2005; 54: 35673572
CrossRef | PubMed | Scopus (21)

[90]Halsall, D.J., McFarlane, I., Luan, J., Cox, T.M., and Wareham, N.J. Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case-control study. Hum Mol Genet. 2003; 12: 13611365
CrossRef | PubMed

[91]Fernandez-Real, J.M., Vendrell, J., Baiget, M., Gimferrer, E., and Ricart, W. C282Y and H63D mutations of the hemochromatosis candidate gene in type 2 diabetes. Diabetes Care. 1999; 22: 525526
CrossRef | PubMed

[92]Braun, J., Donner, H., Plock, K., Rau, H., Usadel, K.H., and Badenhoop, K. Hereditary haemochromatosis mutations (HFE) in patients with Type II diabetes mellitus. Diabetologia. 1998; 41: 983984
CrossRef | PubMed | Scopus (34)

[93]Malecki, M.T., Klupa, T., Walus, M., Czogala, W., Greenlaw, P., and Sieradzki, J. A search for association between hereditary hemochromatosis HFE gene mutations and type 2 diabetes mellitus in a Polish population. Med Sci Mon Int Med J Exp Clin Res. 2003; 9: BR91BR95

[94]Sampson, M.J., Williams, T., Heyburn, P.J., Greenwood, R.H., Temple, R.C., Wimperis, J.Z. et al. Prevalence of HFE (hemochromatosis gene) mutations in unselected male patients with type 2 diabetes. J Lab Clin Med. 2000; 135: 170173
PubMed

[95]Njajou, O.T., Alizadeh, B.Z., Vaessen, N., Vergeer, J., Houwing-Duistermaat, J., Hofman, A. et al. The role of hemochromatosis C282Y and H63D gene mutations in type 2 diabetes: findings from the Rotterdam Study and meta-analysis. Diabetes Care. 2002; 25: 21122113
CrossRef | PubMed

[96]Peterlin, B., Globocnik Petrovic, M., Makuc, J., Hawlina, M., and Petrovic, D. A hemochromatosis-causing mutation C282Y is a risk factor for proliferative diabetic retinopathy in Caucasians with type 2 diabetes. J Hum Genet. 2003; 48: 646649
CrossRef | PubMed | Scopus (16)

[97]Ellervik, C., Mandrup-Poulsen, T., Nordestgaard, B.G., Larsen, L.E., Appleyard, M., Frandsen, M. et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet. 2001; 358: 14051409
Abstract | Full Text | Full Text PDF | PubMed | Scopus (64)

[98]Poullis, A., Moodie, S.J., Ang, L., Finlayson, C.J., Levin, G.E., and Maxwell, J.D. Routine transferrin saturation measurement in liver clinic patients increases detection of hereditary haemochromatosis. Ann Clin Biochem. 2003; 40: 521527
CrossRef | PubMed | Scopus (6)

[99]Poullis, A., Moodie, S.J., and Maxwell, J.D. Clinical haemochromatosis in HFE mutation carriers. Lancet. 2002; 360: 411412
Abstract | Full Text | Full Text PDF | PubMed

[100]Nichols, L., Dickson, G., Phan, P.G., and Kant, J.A. Iron binding saturation and genotypic testing for hereditary hemochromatosis in patients with liver disease. Am J Clin Pathol. 2006; 125: 236240
PubMed

[101]Willis, G., Bardsley, V., Fellows, I.W., Lonsdale, R., Wimperis, J.Z., and Jennings, B.A. Hepatocellular carcinoma and the penetrance of HFE C282Y mutations: a cross sectional study. BMC Gastroenterol. 2005; 1: 517

[102]Cauza, E., Peck-Radosavljevic, M., Ulrich-Pur, H., Datz, C., Gschwantler, M., Schoniger-Hekele, M. et al. Mutations of the HFE gene in patients with hepatocellular carcinoma. Am J Gastroenterol. 2003; 98: 442447
CrossRef | PubMed | Scopus (38)

[103]Hellerbrand, C., Poppl, A., Hartmann, A., Scholmerich, J., and Lock, G. HFE C282Y heterozygosity in hepatocellular carcinoma: evidence for an increased prevalence. Clin Gastroenterol Hepatol. 2003; 1: 279284
PubMed | Scopus (43)

[104]Boige, V., Castera, L., de Roux, N., Ganne-Carrie, N., Ducot, B., Pelletier, G. et al. Lack of association between HFE gene mutations and hepatocellular carcinoma in patients with cirrhosis. Gut. 2003; 52: 11781181
CrossRef | PubMed | Scopus (35)

[105]Lauret, E., Rodriguez, M., Gonzalez, S., Linares, A., Lopez-Vazquez, A., Martinez-Borra, J. et al. HFE gene mutations in alcoholic and virus-related cirrhotic patients with hepatocellular carcinoma. Am J Gastroenterol. 2002; 97: 10161021
CrossRef | PubMed

[106]Pirisi, M., Toniutto, P., Uzzau, A., Fabris, C., Avellini, C., Scott, C. et al. Carriage of HFE mutations and outcome of surgical resection for hepatocellular carcinoma in cirrhotic patients. Cancer. 2000; 89: 297302
CrossRef | PubMed | Scopus (26)

[107]Fargion, S., Stazi, M.A., Fracanzani, A.L., Mattioli, M., Sampietro, M., Tavazzi, D. et al. Mutations in the HFE gene and their interaction with exogenous risk factors in hepatocellular carcinoma. Blood Cells Mol Dis. 2001; 27: 505511
CrossRef | PubMed | Scopus (27)

[108]Bonkovsky, H.L., Poh Fitzpatrick, M., Pimstone, N., Obando, J., Di Bisceglie, A., Tattrie, C. et al. Porphyria cutanea tarda, hepatitis C, and HFE gene mutations in North America. Hepatology (Baltimore, MD). 1998; 27: 16611669
CrossRef | PubMed | Scopus (175)

[109]Chiaverini, C., Halimi, G., Ouzan, D., Halfon, P., Ortonne, J.P., and Lacour, J.P. Porphyria cutanea tarda, C282Y, H63D and S65C HFE gene mutations and hepatitis C infection: a study from southern France. Dermatology (Basel, Switzerland). 2003; 206: 212216
CrossRef | PubMed | Scopus (16)

[110]Cribier, B., Chiaverini, C., Dali Youcef, N., Schmitt, M., Grima, M., Hirth, C. et al. Porphyria cutanea tarda, hepatitis C, uroporphyrinogen decarboxylase and mutations of HFE gene. A case-control study. Dermatology (Basel, Switzerland). 2009; 218: 1521
CrossRef | PubMed | Scopus (4)

[111]Egger, N.G., Goeger, D.E., Payne, D.A., Miskovsky, E.P., Weinman, S.A., and Anderson, K.E. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C, and inherited uroporphyrinogen decarboxylase deficiency. Dig Dis Sci. 2002; 47: 419426
CrossRef | PubMed | Scopus (43)

[112]Frank, J., Poblete Gutierrez, P., Weiskirchen, R., Gressner, O., Merk, H.F., and Lammert, F. Hemochromatosis gene sequence deviations in German patients with porphyria cutanea tarda. Physiol Res. 2006; 55: S75S83
PubMed

[113]Gonzalez Hevilla, M., de Salamanca, R.E., Morales, P., Martinez Laso, J., Fontanellas, A., Castro, M.J. et al. Human leukocyte antigen haplotypes and HFE mutations in Spanish hereditary hemochromatosis and sporadic porphyria cutanea tarda. J Gastroenterol Hepatol. 2005; 20: 456462
CrossRef | PubMed | Scopus (8)

[114]Hift, R.J., Corrigall, A.V., Hancock, V., Kannemeyer, J., Kirsch, R.E., and Meissner, P.N. Porphyria cutanea tarda: the etiological importance of mutations in the HFE gene and viral infection is population-dependent. Cell Mol Biol (Noisy le Grand, France). 2002; 48: 853859
PubMed

[115]Kratka, K., Dostalikova Cimburova, M., Michalikova, H., Stransky, J., Vranova, J., and Horak, J. High prevalence of HFE gene mutations in patients with porphyria cutanea tarda in the Czech Republic. Br J Dermatol. 2008; 159: 585590
CrossRef | PubMed | Scopus (8)

[116]Lamoril, J., Andant, C., Gouya, L., Malonova, E., Grandchamp, B., Martasek, P. et al. Hemochromatosis (HFE) and transferrin receptor-1 (TFRC1) genes in sporadic porphyria cutanea tarda (sPCT). Cell Mol Biol (Noisy-le-grand). 2002; 48: 3341
PubMed

[117]Martinelli, A.L., Zago, M.A., Roselino, A.M., Filho, A.B., Villanova, M.G., Secaf, M. et al. Porphyria cutanea tarda in Brazilian patients: association with hemochromatosis C282Y mutation and hepatitis C virus infection. Am J Gastroenterol. 2000; 95: 35163521
CrossRef | PubMed

[118]Mehrany, K., Drage, L.A., Brandhagen, D.J., and Pittelkow, M.R. Association of porphyria cutanea tarda with hereditary hemochromatosis. J Am Acad Dermatol. 2004; 51: 205211
PubMed

[119]Nagy, Z., Koszo, F., Par, A., Emri, G., Horkay, I., Horanyi, M. et al. Hemochromatosis (HFE) gene mutations and hepatitis C virus infection as risk factors for porphyria cutanea tarda in Hungarian patients. Liver Int. 2004; 24: 1620
CrossRef | PubMed

[120]Roberts, A.G., Whatley, S.D., Morgan, R.R., Worwood, M., and Elder, G.H. Increased frequency of the haemochromatosis Cys282Tyr mutation in sporadic porphyria cutanea tarda. Lancet. 1997; 349: 321323
Abstract | Full Text | Full Text PDF | PubMed | Scopus (255)

[121]Stolzel, U., Kostler, E., Schuppan, D., Richter, M., Wollina, U., Doss, M.O. et al. Hemochromatosis (HFE) gene mutations and response to chloroquine in porphyria cutanea tarda. Arch Dermatol. 2003; 139: 309313
CrossRef | PubMed | Scopus (32)

[122]Stuart, K.A., Busfield, F., Jazwinska, E.C., Gibson, P., Butterworth, L.A., Cooksley, W.G. et al. 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. 1998; 28: 404409
PubMed | Scopus (90)

[123]Tannapfel, A., Stolzel, U., Kostler, E., Melz, S., Richter, M., Keim, V. et al. C282Y and H63D mutation of the hemochromatosis gene in German porphyria cutanea tarda patients. Virchows Arch. 2001; 439: 15
CrossRef | PubMed | Scopus (36)

[124]Toll, A., Celis, R., Ozalla, M.D., Bruguera, M., Herrero, C., and Ercilla, M.G. The prevalence of HFE C282Y gene mutation is increased in Spanish patients with porphyria cutanea tarda without hepatitis C virus infection. J Eur Acad Dermatol Venereol. 2006; 20: 12011206
CrossRef | PubMed | Scopus (11)

[125]Sampietro, M., Piperno, A., Lupica, L., Arosio, C., Vergani, A., Corbetta, N. et al. High prevalence of the His63Asp HFE mutation in Italian patients with porphyria cutanea tarda. Hepatology (Baltimore, MD). 1998; 27: 181184
CrossRef | PubMed | Scopus (157)

[126]Ellervik, C., Birgens, H., Tybjaerg Hansen, A., and Nordestgaard, B.G. Hemochromatosis genotypes and risk of 31 disease endpoints: meta-analyses including 66,000 cases and 226,000 controls. Hepatology (Baltimore, MD). 2007; 46: 10711080
CrossRef | PubMed | Scopus (57)

[127]McDonnell, S.M., Hover, A., Gloe, D., Ou, C.Y., Cogswell, M.E., and Grummer-Strawn, L. Population-based screening for hemochromatosis using phenotypic and DNA testing among employees of health maintenance organizations in Springfield, Missouri. Am J Med. 1999; 107: 3037
PubMed | Scopus (82)

[128]Delatycki, M.B., Allen, K.J., Nisselle, A.E., Collins, V., Metcalfe, S., du Sart, D. et al. Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet. 2005; 366: 314316
Abstract | Full Text | Full Text PDF | PubMed | Scopus (54)

[129]Adams, P.C., Kertesz, A.E., McLaren, C.E., Barr, R., Bamford, A., and Chakrabarti, S. Population screening for hemochromatosis: a comparison of unbound iron-binding capacity, transferrin saturation, and C282Y genotyping in 5211 voluntary blood donors. Hepatology. 2000; 31: 11601164
CrossRef | PubMed

[130]Barton, J.C., Acton, R.T., Lovato, L., Speechley, M.R., McLaren, C.E., Harris, E.L. et al. Initial screening transferrin saturation values, serum ferritin concentrations, and HFE genotypes in Native Americans and whites in the Hemochromatosis and Iron Overload Screening Study. Clin Genet. 2006; 69: 4857
CrossRef | PubMed | Scopus (12)

[131]Asberg, A., Hveem, K., Thorstensen, K., Ellekjter, E., Kannelonning, K., Fjosne, U. et al. Screening for hemochromatosis: high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol. 2001; 36: 11081115
CrossRef | PubMed | Scopus (176)

[132]Gordeuk, V.R., Reboussin, D.M., McLaren, C.E., Barton, J.C., Acton, R.T., McLaren, G.D. et al. Serum ferritin concentrations and body iron stores in a multicenter, multiethnic primary-care population. Am J Hematol. 2008; 83: 618626
CrossRef | PubMed | Scopus (14)

[133]Waalen, J., Felitti, V.J., Gelbart, T., and Beutler, E. Screening for hemochromatosis by measuring ferritin levels: a more effective approach. Blood. 2008; 111: 33733376
CrossRef | PubMed | Scopus (44)

[134]Bax, L., Yu, L.M., Ikeda, N., Tsuruta, H., and Moons, K.G. Development and validation of MIX: comprehensive free software for meta-analysis of causal research data. BMC Med Res Methodol. 2006; 6: 50
CrossRef | PubMed | Scopus (251)

[135]Bax L, Yu LM, Ikeda N, Tsuruta H, Moons KGM. MIX: comprehensive free software for meta-analysis of causal research data. Version 1.7., 2009.

[136]Distante, S., Berg, J.P., Lande, K., Haug, E., and Bell, H. HFE gene mutation (C282Y) and phenotypic expression among a hospitalised population in a high prevalence area of haemochromatosis. Gut. 2000; 47: 575579
CrossRef | PubMed | Scopus (46)

[137]Bulaj, Z.J., Ajioka, R.S., Phillips, J.D., LaSalle, B.A., Jorde, L.B., Griffen, L.M. et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med. 2000; 343: 15291535
CrossRef | PubMed | Scopus (148)

[138]Barton, J.C., Rothenberg, B.E., Bertoli, L.F., and Acton, R.T. Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping. Genet Med. 1999; 1: 8993
CrossRef | PubMed

[139]Waalen, J., Felitti, V., Gelbart, T., Ho, N.J., and Beutler, E. Prevalence of hemochromatosis-related symptoms among individuals with mutations in the HFE gene. Mayo Clin Proc. 2002; 77: 522530
PubMed

[140]Olynyk, J.K., Hagan, S.E., Cullen, D.J., Beilby, J., and Whittall, D.E. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc. 2004; 79: 309313
PubMed

[141]Andersen, R.V., Tybjaerg-Hansen, A., Appleyard, M., Birgens, H., and Nordestgaard, B.G. Hemochromatosis mutations in the general population: iron overload progression rate. Blood. 2004; 103: 29142919
CrossRef | PubMed | Scopus (111)

[142]Gleeson, F., Ryan, E., Barrett, S., and Crowe, J. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol. 2004; 16: 859863
CrossRef | PubMed | Scopus (21)

[143]Rossi, E., Kuek, C., Beilby, J.P., Jeffrey, G.P., Devine, A., and Prince, R.L. Expression of the HFE hemochromatosis gene in a community-based population of elderly women. J Gastroenterol Hepatol. 2004; 19: 11501154
CrossRef | PubMed | Scopus (2)

[144]Powell, L.W., Dixon, J.L., Ramm, G.A., Purdie, D.M., Lincoln, D.J., Anderson, G.J. et al. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med. 2006; 166: 294301
CrossRef | PubMed | Scopus (79)

[145]Asberg, A., Hveem, K., Kannelonning, K., and Irgens, W.O. Penetrance of the C28Y/C282Y genotype of the HFE gene. Scand J Gastroenterol. 2007; 42: 10731077
CrossRef | PubMed | Scopus (12)

[146]Allen, K.J., Gurrin, L.C., Constantine, C.C., Osborne, N.J., Delatycki, M.B., Nicoll, A.J. et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008; 358: 221230
CrossRef | PubMed | Scopus (228)

[147]Whitlock, E.P., Garlitz, B.A., Harris, E.L., Beil, T.L., and Smith, P.R. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006; 145: 209223
CrossRef | PubMed

[148]Feder, J.N. The hereditary hemochromatosis gene (HFE): a MHC class I-like gene that functions in the regulation of iron homeostasis. Immunol Res. 1999; 20: 175185
CrossRef | PubMed

[149]Jazwinska, E.C. and Powell, L.W. Hemochromatosis and HLA-H: definite!. Hepatology. 1997; 25: 495496
PubMed

[150]Koeken, A., Cobbaert, C., Quint, W., and van Doorn, L.J. Genotyping of hemochromatosis-associated mutations in the HFE gene by PCR-RFLP and a novel reverse hybridization method. Clin Chem Lab Med FESCC. 2002; 40: 122125
PubMed

[151]Cunat, S., Giansily Blaizot, M., Bismuth, M., Blanc, F., Dereure, O., Larrey, D. et al. Global sequencing approach for characterizing the molecular background of hereditary iron disorders. Clin Chem. 2007; 53: 20602069
CrossRef | PubMed | Scopus (10)

[152]Cukjati, M., Koren, S., Curin Serbec, V., Vidan-Jeras, B., and Rupreht, R. A novel homozygous frameshift deletion c.471del of HFE associated with hemochromatosis. Clin Genet. 2007; 71: 350353
CrossRef | PubMed | Scopus (4)

[153]Steiner, M., Ocran, K., Genschel, J., Meier, P., Gerl, H., Ventz, M. et al. A homozygous HFE gene splice site mutation (IVS5+1 G/A) in a hereditary hemochromatosis patient of Vietnamese origin. Gastroenterology. 2002; 122: 789795
PubMed

[154]Barton, J.C., Sawada Hirai, R., Rothenberg, B.E., and Acton, R.T. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands. Blood Cells Mol Dis. 1999; 25: 147155
CrossRef | PubMed | Scopus (130)

[155]de Kok, J.B., Wiegerinck, E.T., Giesendorf, B.A., and Swinkels, D.W. Rapid genotyping of single nucleotide polymorphisms using novel minor groove binding DNA oligonucleotides (MGB probes). Hum Mutat. 2002; 19: 554559
CrossRef | PubMed | Scopus (93)

[156]Behrens, M. and Lange, R. A highly reproducible and economically competitive SNP analysis of several well characterized human mutations. Clin Lab. 2004; 50: 305316
PubMed

[157]Alsmadi, O.A., Al Kayal, F., Al Hamed, M., and Meyer, B.F. Frequency of common HFE variants in the Saudi population: a high throughput molecular beacon-based study. BMC Med Genet. 2006; 7: 43
CrossRef | PubMed | Scopus (5)

[158]Castley, A., Higgins, M., Ivey, J., Mamotte, C., Sayer, D.C., and Christiansen, F.T. Clinical applications of whole-blood PCR with real-time instrumentation. Clin Chem. 2005; 51: 20252030
CrossRef | PubMed | Scopus (9)

[159]Walburger, D.K., Afonina, I.A., and Wydro, R. An improved real time PCR method for simultaneous detection of C282Y and H63D mutations in the HFE gene associated with hereditary hemochromatosis. Mutat Res. 2001; 432: 6978
CrossRef | PubMed | Scopus (28)

[160]Cheng, J., Zhang, Y., and Li, Q. Real-time PCR genotyping using displacing probes. Nucleic Acids Res. 2004; 32: e61
CrossRef | PubMed

[161]Bach, V., Barcelo, M.J., Altes, A., Remacha, A., Felez, J., and Baiget, M. Genotyping the HFE gene by melting point analysis with the LightCycler system: Pros and cons. Blood Cells Mol Dis. 2006; 36: 288291
CrossRef | PubMed | Scopus (5)

[162]Moyses, C.B., Moreira, E.S., Asprino, P.F., Guimaraes, G.S., and Alberto, F.L. Simultaneous detection of the C282Y, H63D and S65C mutations in the hemochromatosis gene using quenched-FRET real-time PCR. Braz J Med Biol Res [Rev Bras Pesq Med Biol, Sociedade Brasileira de Biofisica]. 2008; 41: 833838
CrossRef

[163]Biasiotto, G., Belloli, S., Ruggeri, G., Zanella, I., Gerardi, G., Corrado, M. et al. Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. Clin Chem. 2003; 49: 19811988
CrossRef | PubMed | Scopus (54)

[164]Smillie, D. A PCR-SSP method for detecting the Cys282Tyr mutation in the HFE gene associated with hereditary haemochromatosis. Mol Pathol. 1997; 50: 275276
CrossRef | PubMed

[165]Smillie, D. A PCR-SSP method for detecting the His63Asp mutation in the HFE gene associated with hereditary haemochromatosis. Mol Pathol. 1998; 51: 232233
CrossRef | PubMed

[166]Steffensen, R., Varming, K., and Jersild, C. Determination of gene frequencies for two common haemochromatosis mutations in the Danish population by a novel polymerase chain reaction with sequence-specific primers. Tissue Antigens. 1998; 52: 230235
CrossRef | PubMed

[167]Wenz, H.M., Baumhueter, S., Ramachandra, S., and Worwood, M. A rapid automated SSCP multiplex capillary electrophoresis protocol that detects the two common mutations implicated in hereditary hemochromatosis (HH). Hum Genet. 1999; 104: 2935
CrossRef | PubMed | Scopus (32)

[168]Guttridge, M.G., Carter, K., Worwood, M., and Darke, C. Population screening for hemochromatosis by PCR using sequence-specific primers. Genet Test. 2000; 4: 111114
CrossRef | PubMed | Scopus (7)

[169]Guttridge, M.G., Thompson, J., Worwood, M., and Darke, C. Rapid detection of genetic mutations associated with haemochromatosis. Vox Sang. 1998; 75: 253256
CrossRef | PubMed

[170]Kaur, G., Rapthap, C.C., Xavier, M., Saxena, R., Choudhary, V.P., Reuben, S.K. et al. Distribution of C282Y and H63D mutations in the HFE gene in healthy Asian Indians and patients with thalassaemia major. Natl Med J India. 2003; 16: 309310
PubMed

[171]Turner, M.S., Penning, S., Sharp, A., Hyland, V.J., Harris, R., Morris, C.P. et al. Solid-phase amplification for detection of C282y and H63D hemochromatosis (HFE) gene mutations. Clin Chem. 2001; 47: 13841389
PubMed

[172]Bosserhoff, A.K., Seegers, S., Hellerbrand, C., Scholmerich, J., and Buttner, R. Rapid genetic screening for hemochromatosis using automated SSCP-based capillary electrophoresis (SSCP-CE). Biotechniques. 1999; 26: 11061110
PubMed

[173]Simonsen, K., Dissing, J., Rudbeck, L., and Schwartz, M. Rapid and simple determination of hereditary haemochromatosis mutations by multiplex PCR-SSCP: detection of a new polymorphic mutation. Ann Hum Genet. 1999; 63: 193197
CrossRef | PubMed

[174]Kim, S., Edwards, J.R., Deng, L., Chung, W., and Ju, J. Solid phase capturable dideoxynucleotides for multiplex genotyping using mass spectrometry. Nucleic Acids Research. 2002; 30: e85
CrossRef | PubMed

[175]Bernacki, S.H., Farkas, D.H., Shi, W., Chan, V., Liu, Y., Beck, J.C. et al. Bioelectronic sensor technology for detection of cystic fibrosis and hereditary hemochromatosis mutations. Arch Pathol Lab Med. 2003; 127: 15651572
PubMed

[176]Footz, T., Somerville, M.J., Tomaszewski, R., Elyas, B., and Backhouse, C.J. Integration of combined heteroduplex/restriction fragment length polymorphism analysis on an electrophoresis microchip for the detection of hereditary haemochromatosis. Analyst. 2004; 129: 2531
CrossRef | PubMed | Scopus (23)

[177]Bosserhoff, A.K., Buettner, R., and Hellerbrand, C. Use of capillary electrophoresis for high throughput screening in biomedical applications. A minireview. Comb Chem High Throughput Screen. 2000; 3: 455466
CrossRef | PubMed

[178]Devaney, J.M., Pettit, E.L., Kaler, S.G., Vallone, P.M., Butler, J.M., and Marino, M.A. Genotyping of two mutations in the HFE gene using single-base extension and high-performance liquid chromatography. Anal Chem. 2001; 73: 620624
CrossRef | PubMed | Scopus (29)

[179]Lubin, I.M., Yamada, N.A., Stansel, R.M., Pace, R.G., Rohlfs, E.M., and Silverman, L.M. HFE genotyping using multiplex allele-specific polymerase chain reaction and capillary electrophoresis. Arch Pathol Lab Med. 1999; 123: 11771181
PubMed

[180]Kotze, M.J., de Villiers, J.N., Bouwens, C.S., Warnich, L., Zaahl, M.G., van der Merwe, S. et al. Molecular diagnosis of hereditary hemochromatosis: application of a newly-developed reverse-hybridization assay in the South African population. Clin Genet. 2004; 65: 317321
CrossRef | PubMed | Scopus (11)

[181]Oberkanins, C., Moritz, A., de Villiers, J.N., Kotze, M.J., and Kury, F. A reverse-hybridization assay for the rapid and simultaneous detection of nine HFE gene mutations. Genet Test. 2000; 4: 121124
CrossRef | PubMed | Scopus (39)

[182]Rivers, C.A., Barton, J.C., and Acton, R.T. A rapid PCR-SSP assay for the hemochromatosis-associated Tyr250Stop mutation in the TFR2 gene. Genet Test. 2001; 5: 131134
CrossRef | PubMed

[183]Somerville, M.J., Sprysak, K.A., Hicks, M., Elyas, B.G., and Vicen-Wyhony, L. An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis. Am J Hum Genet. 1999; 65: 924926
Abstract | Full Text | Full Text PDF | PubMed | Scopus (30)

[184]Klaassen, C.H., van Aarssen, Y.A., and van der Stappen, J.W. Improved real-time detection of the H63D and S65C mutations associated with hereditary hemochromatosis using a SimpleProbe assay format. Clin Chem Lab Med. 2008; 46: 985986
CrossRef | PubMed | Scopus (3)

[185]Schranz, M., Talasz, H., Graziadei, I., Winder, T., Sergi, C., Bogner, K. et al. Diagnosis of hepatic iron overload: a family study illustrating pitfalls in diagnosing hemochromatosis. Diagn Mol Pathol. 2009; 18: 5360
CrossRef | PubMed | Scopus (1)

[186]Sebastiani, G., Wallace, D.F., Davies, S.E., Kulhalli, V., Walker, A.P., and Dooley, J.S. Fatty liver in H63D homozygotes with hyperferritinemia. World J Gastroenterol. 2006; 12: 17881792
PubMed

[187]Jackson, H.A., Carter, K., Darke, C., Guttridge, M.G., Ravine, D., Hutton, R.D. et al. HFE mutations, iron deficiency and overload in 10,500 blood donors. Br J Haematol. 2001; 114: 474484
CrossRef | PubMed | Scopus (146)

[188]de Villiers, J.N., Hillermann, R., Loubser, L., and Kotze, M.J. Spectrum of mutations in the HFE gene implicated in haemochromatosis and porphyria. Hum Mol Genet. 1999; 8: 15171522
CrossRef | PubMed | Scopus (59)

[189]Bradbury, R., Fagan, E., and Payne, S.J. Two novel polymorphisms (E277K and V212V) in the haemochromatosis gene HFE. Hum Mutat. 2000; 15: 120
CrossRef | PubMed

[190]Floreani, A., Navaglia, F., Basso, D., Zambon, C.F., Basso, G., Germano, G. et al. Intron 2 [IVS2, T-C +4] HFE gene mutation associated with S65C causes alternative RNA splicing and is responsible for iron overload. Hepatol Res. 2005; 33: 5760
CrossRef | PubMed | Scopus (5)

[191]Piperno, A., Arosio, C., Fossati, L., Vigano, M., Trombini, P., Vergani, A. et al. Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. Gastroenterology. 2000; 119: 441445
PubMed

[192]Wallace, D.F., Dooley, J.S., and Walker, A.P. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote. Gastroenterology. 1999; 116: 14091412
PubMed | Scopus (124)

[193]Gochee, P.A., Powell, L.W., Cullen, D.J., Du Sart, D., Rossi, E., and Olynyk, J.K. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 2002; 122: 646651
PubMed

[194]Wallace, D.F., Walker, A.P., Pietrangelo, A., Clare, M., Bomford, A.B., Dixon, J.L. et al. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. J Hepatol. 2002; 36: 474479
PubMed | Scopus (41)

[195]Aguilar Martinez, P., Biron, C., Blanc, F., Masmejean, C., Jeanjean, P., Michel, H. et al. Compound heterozygotes for hemochromatosis gene mutations: may they help to understand the pathophysiology of the disease?. Blood Cells Mol Dis. 1997; 23: 269276
CrossRef | PubMed | Scopus (64)

[196]Gandon, Y., Olivie, D., Guyader, D., Aube, C., Oberti, F., Sebille, V. et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 2004; 363: 357362
Abstract | Full Text | Full Text PDF | PubMed | Scopus (224)

[197]St Pierre, T.G., Clark, P.R., Chua-Anusorn, W., Fleming, A.J., Jeffrey, G.P., Olynyk, J.K. et al. Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood. 2005; 105: 855861
CrossRef | PubMed | Scopus (292)

[198]Ernst, O., Sergent, G., Bonvarlet, P., Canva-Delcambre, V., Paris, J.C., and LHermine, C. Hepatic iron overload: diagnosis and quantification with MR imaging. AJR Am J Roentgenol. 1997; 168: 12051208
CrossRef | PubMed

[199]Brittenham, G.M., Farrell, D.E., Harris, J.W., Feldman, E.S., Danish, E.H., Muir, W.A. et al. Magnetic-susceptibility measurement of human iron stores. N Engl J Med. 1982; 307: 16711675
CrossRef | PubMed

[200]Nielsen, P., Engelhardt, R., Duerken, M., Janka, G.E., and Fischer, R. Using SQUID biomagnetic liver susceptometry in the treatment of thalassemia and other iron loading diseases. Transfus Sci. 2000; 23: 257258
PubMed | Scopus (17)

[201]Fischer, R., Piga, A., Harmatz, P., and Nielsen, P. Monitoring long-term efficacy of iron chelation treatment with biomagnetic liver susceptometry. Ann NY Acad Sci. 2005; 1054: 350357
CrossRef | PubMed | Scopus (30)

[202]Guyader, D., Jacquelinet, C., Moirand, R., Turlin, B., Mendler, M.H., Chaperon, J. et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998; 115: 929936
PubMed | Scopus (223)

[203]Morrison, E.D., Brandhagen, D.J., Phatak, P.D., Barton, J.C., Krawitt, E.L., El-Serag, H.B. et al. Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med. 2003; 138: 627633
CrossRef | PubMed

[204]Crawford, D.H., Murphy, T.L., Ramm, L.E., Fletcher, L.M., Clouston, A.D., Anderson, G.J. et al. Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis. Hepatology. 2009; 49: 418425
CrossRef | PubMed | Scopus (20)

[205]Adhoute, X., Foucher, J., Laharie, D., Terrebonne, E., Vergniol, J., Castera, L. et al. Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study. Gastroenterol Clin Biol. 2008; 32: 180187
CrossRef | PubMed | Scopus (36)

[206]El Serag, H.B., Inadomi, J.M., and Kowdley, K.V. Screening for hereditary hemochromatosis in siblings and children of affected patients. A cost-effectiveness analysis. Ann Intern Med. 2000; 132: 261269
CrossRef | PubMed

[207]Houglum, K., Ramm, G.A., Crawford, D.H., Witztum, J.L., Powell, L.W., and Chojkier, M. Excess iron induces hepatic oxidative stress and transforming growth factor beta1 in genetic hemochromatosis. Hepatology. 1997; 26: 605610
CrossRef | PubMed

[208]Bassett, M.L., Halliday, J.W., and Powell, L.W. Value of hepatic iron measurements in early hemochromatosis and determination of the critical iron level associated with fibrosis. Hepatology. 1986; 6: 2429
CrossRef | PubMed

[209]Le Lan, C., Loreal, O., Cohen, T., Ropert, M., Glickstein, H., Laine, F. et al. Redox active plasma iron in C282Y/C282Y hemochromatosis. Blood. 2005; 105: 45274531
CrossRef | PubMed | Scopus (46)

[210]Bomford, A. and Williams, R. Long term results of venesection therapy in idiopathic haemochromatosis. Q J Med. 1976; 45: 611623
PubMed

[211]Milman, N., Pedersen, P., a Steig, T., Byg, K.E., Graudal, N., and Fenger, K. Clinically overt hereditary hemochromatosis in Denmark 19481985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol. 2001; 80: 737744
CrossRef | PubMed | Scopus (65)

[212]Falize, L., Guillygomarch, A., Perrin, M., Laine, F., Guyader, D., Brissot, P. et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology. 2006; 44: 472477
CrossRef | PubMed | Scopus (65)

[213]Powell, L.W. and Kerr, J.F. Reversal of cirrhosis in idiopathic haemochromatosis following long-term intensive venesection therapy. Australas Ann Med. 1970; 19: 5457
PubMed

[214]Niederau, C., Fischer, R., Purschel, A., Stremmel, W., Haussinger, D., and Strohmeyer, G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996; 110: 11071119
PubMed | Scopus (562)

[215]Fracanzani, A.L., Fargion, S., Romano, R., Conte, D., Piperno, A., DAlba, R. et al. Portal hypertension and iron depletion in patients with genetic hemochromatosis. Hepatology. 1995; 22: 11271131
CrossRef | PubMed

[216]Adams, P.C. Factors affecting the rate of iron mobilization during venesection therapy for genetic hemochromatosis. Am J Hematol. 1998; 58: 1619
CrossRef | PubMed | Scopus (16)

[217]Hicken, B.L., Tucker, D.C., and Barton, J.C. Patient compliance with phlebotomy therapy for iron overload associated with hemochromatosis. Am J Gastroenterol. 2003; 98: 20722077
CrossRef | PubMed | Scopus (23)

[218]Adams, P.C., Kertesz, A.E., and Valberg, L.S. Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. J Clin Gastroenterol. 1993; 16: 207210
CrossRef | PubMed

[219]Hutchinson, C., Geissler, C.A., Powell, J.J., and Bomford, A. Proton pump inhibitors suppress absorption of dietary non-haem iron in hereditary haemochromatosis. Gut. 2007; 56: 12911295
CrossRef | PubMed | Scopus (56)

[220]Kaltwasser, J.P., Werner, E., Schalk, K., Hansen, C., Gottschalk, R., and Seidl, C. Clinical trial on the effect of regular tea drinking on iron accumulation in genetic haemochromatosis. Gut. 1998; 43: 699704
CrossRef | PubMed

[221]Milward, E.A., Baines, S.K., Knuiman, M.W., Bartholomew, H.C., Divitini, M.L., Ravine, D.G. et al. Noncitrus fruits as novel dietary environmental modifiers of iron stores in people with or without HFE gene mutations. Mayo Clin Proc. 2008; 83: 543549
PubMed

[222]Nienhuis, A.W. Vitamin C and iron. N Engl J Med. 1981; 304: 170171
CrossRef | PubMed

[223]Schofield, R.S., Aranda, J.M. Jr., Hill, J.A., and Streiff, R. Cardiac transplantation in a patient with hereditary hemochromatosis: role of adjunctive phlebotomy and erythropoietin. J Heart Lung Transplant. 2001; 20: 696698
PubMed | Scopus (8)

[224]Barton, J.C., Grindon, A.J., Barton, N.H., and Bertoli, L.F. Hemochromatosis probands as blood donors. Transfusion. 1999; 39: 578585
CrossRef | PubMed | Scopus (18)

[225]Fletcher, L.M., Dixon, J.L., Purdie, D.M., Powell, L.W., and Crawford, D.H. Excess alcohol greatly increases the prevalence of cirrhosis in hereditary hemochromatosis. Gastroenterology. 2002; 122: 281289
PubMed

[226]Harrison-Findik, D.D., Klein, E., Crist, C., Evans, J., Timchenko, N., and Gollan, J. Iron-mediated regulation of liver hepcidin expression in rats and mice is abolished by alcohol. Hepatology. 2007; 46: 19791985
CrossRef | PubMed | Scopus (39)

[227]Chapman, R.W., Morgan, M.Y., Boss, A.M., and Sherlock, S. Acute and chronic effects of alcohol on iron absorption. Dig Dis Sci. 1983; 28: 321327
CrossRef | PubMed

[228]Ioannou, G.N., Dominitz, J.A., Weiss, N.S., Heagerty, P.J., and Kowdley, K.V. The effect of alcohol consumption on the prevalence of iron overload, iron deficiency, and iron deficiency anemia. Gastroenterology. 2004; 126: 12931301
PubMed | Scopus (53)

[229]Ioannou, G.N., Weiss, N.S., and Kowdley, K.V. Relationship between transferrin-iron saturation, alcohol consumption, and the incidence of cirrhosis and liver cancer. Clin Gastroenterol Hepatol. 2007; 5: 624629
PubMed | Scopus (6)

[230]Barton, J.C., McDonnell, S.M., Adams, P.C., Brissot, P., Powell, L.W., Edwards, C.Q. et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med. 1998; 129: 932939
CrossRef | PubMed

[231]Kowdley, K.V., Brandhagen, D.J., Gish, R.G., Bass, N.M., Weinstein, J., Schilsky, M.L. et al. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology. 2005; 129: 494503
Abstract | Full Text | Full Text PDF | PubMed

[232]Yu, L. and Ioannou, G.N. Survival of liver transplant recipients with hemochromatosis in the United States. Gastroenterology. 2007; 133: 489495
PubMed | Scopus (21)

[233]Edwards, C.Q., Kelly, T.M., Ellwein, G., and Kushner, J.P. Thyroid disease in hemochromatosis. Increased incidence in homozygous men. Arch Intern Med. 1983; 143: 18901893
CrossRef | PubMed

[234]Guggenbuhl, P., Deugnier, Y., Boisdet, J.F., Rolland, Y., Perdriger, A., Pawlotsky, Y. et al. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Osteoporos Int. 2005; 16: 18091814
CrossRef | PubMed | Scopus (60)