Management of human factors engineering-associated hemochromatosis: A 2015 update

World Journal of Hepatology

Volumn 8, Issue 8, 2016, Pages 395-400

  Sivakumar, Menaka ^a   Powell, Lawrie W ^b  

^a UNIVERSITY OF QUEENSLAND   (Australia)

^b ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

Author keywords

Genetics; Hemochromatosis; Human factors engineering; Iron storage diseases; Venesections

Indexed keywords

EID: 84961258762     PISSN: None     EISSN: 19485182     Source Type: Journal    
DOI: 10.4254/wjh.v8.i8.395     Document Type: Short Survey

References (34)

1. Von-Recklinghausen F. Uber haemochromatose. Tageblatt Versammlung Dtsche Naturforscher Arzte Heidelberg 1889; 62:324-325
2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Prass CE, Quintana L, Starnes SM, Schatzman RC, Brunke KJ, Drayna DT, Risch NJ, Bacon BR, Wolff RK. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet 1996; 13: 399-408 [PMID: 8696333 DOI: 10.1038/ng0896-399]
3. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and management of hemochromatosis: 2011 practice guideline by the American Association for the Study of Liver Diseases. Hepatology 2011; 54: 328-343 [PMID: 21452290 DOI:10.1002/hep.24330]
4. Ekanayake D, Roddick C, Powell LW. Recent advances in hemochromatosis:a 2015 update : a summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia. Hepatol Int 2015; 9: 174-182 [PMID: 25788196 DOI:10.1007/s12072-015-9608-2]
5. Wood MJ, Skoien R, Powell LW. The global burden of iron overload. Hepatol Int 2009; 3: 434-444 [PMID: 19669241 DOI:10.1007/s12072-009-9144-z]
6. Bardou-Jacquet E, Morcet J, Manet G, Lainé F, Perrin M, Jouanolle AM, Guyader D, Moirand R, Viel JF, Deugnier Y. Decreased cardiovascular and extrahepatic cancer-related mortality in treated patients with mild HFE hemochromatosis. J Hepatol 2015; 62:682-689 [PMID: 25450707 DOI: 10.1016/j. jhep.2014.10.025]
7. Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med 2008; 358:221-230 [PMID: 18199861 DOI: 10.1056/NEJMoa073286]
8. Powell LW, Dixon JL, Ramm GA, Purdie DM, Lincoln DJ, Anderson GJ, Subramaniam VN, Hewett DG, Searle JW, Fletcher LM, Crawford DH, Rodgers H, Allen KJ, Cavanaugh JA, Bassett ML. Screening for hemochromatosis in asymptomatic subjects with or without a family history. Arch Intern Med 2006; 166:294-301 [PMID: 16476869 DOI: 10.1001/archinte.166.3.294]
9. Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-218 [PMID: 11812557 DOI:10.1016/S0140-6736(02)07447-0]
10. Han O. Molecular mechanism of intestinal iron absorption. Metallomics 2011; 3: 103-109 [PMID: 21210059 DOI: 10.1039/c0mt00043d]
11. Bourdon E, Kang DK, Ghosh MC, Drake SK, Wey J, Levine RL, Rouault TA. The role of endogenous heme synthesis and degradation domain cysteines in cellular iron-dependent degradation of IRP2. Blood Cells Mol Dis 2003; 31: 247-255 [PMID: 12972033 DOI: 10.1016/S1079-9796(03)00161-X]
12. Ganz T. Systemic iron homeostasis. Physiol Rev 2013; 93:1721-1741 [PMID: 24137020 DOI: 10.1152/physrev.00008.2013]
13. Lawen A, Lane DJ. Mammalian iron homeostasis in health and disease: uptake, storage, transport, and molecular mechanisms of action. Antioxid Redox Signal 2013; 18: 2473-2507 [PMID:23199217 DOI: 10.1089/ars.2011.4271]
14. Gunshin H, Mackenzie B, Berger UV, Gunshin Y, Romero MF, Boron WF, Nussberger S, Gollan JL, Hediger MA. Cloning and characterization of a mammalian proton-coupled metal-ion transporter. Nature 1997; 388: 482-488 [PMID: 9242408 DOI:10.1038/41343]
15. Bartnikas TB. Known and potential roles of transferrin in iron biology. Biometals 2012; 25: 677-686 [PMID: 22294463 DOI:10.1007/s10534-012-9520-3]
16. Ganz T, Nemeth E. Hepcidin and iron homeostasis. Biochim Biophys Acta 2012; 1823: 1434-1443 [PMID: 22306005 DOI: 10.1016/j.bbamcr.2012.01.014]
17. Khusainova RI, Khusnutdinova NN, Khusnutdinova EK. [Analysis of the hemochromatosis gene (HFE) mutations, C282Y and H63D, in the populations of Central Asia]. Genetika 2006; 42:421-426 [PMID: 16649670]
18. Hayashi H, Wakusawa S, Motonishi S, Miyamoto K, Okada H, Inagaki Y, Ikeda T. Genetic background of primary iron overload syndromes in Japan. Intern Med 2006; 45: 1107-1111 [PMID:17106152 DOI: 10.2169/internalmedicine.45.1876]
19. Lee JY, Yoo KH, Hahn SH. HFE gene mutation, C282Y causing hereditary hemochromatosis in Caucasian is extremely rare in Korean population. J Korean Med Sci 2000; 15: 179-182 [PMID:10803694 DOI: 10.3346/jkms.2000.15.2.179]
20. Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 2010; 139: 393-408, 408. e1-2 [PMID: 20542038 DOI: 10.1053/j.gastro.2010.06.013]
21. Fracanzani AL, Piperno A, Valenti L, Fraquelli M, Coletti S, Maraschi A, Consonni D, Coviello E, Conte D, Fargion S. Hemochromatosis in Italy in the last 30 years: role of genetic and acquired factors. Hepatology 2010; 51: 501-510 [PMID: 20101754 DOI: 10.1002/hep.23333]
22. Bassett ML, Hickman PE, Dahlstrom JE. The changing role of liver biopsy in diagnosis and management of haemochromatosis. Pathology 2011; 43: 433-439 [PMID: 21716156 DOI: 10.1097/PAT.0b013e3283490e04]
23. Kanwar P, Kowdley KV. Diagnosis and treatment of hereditary hemochromatosis: an update. Expert Rev Gastroenterol Hepatol 2013; 7: 517-530 [PMID: 23985001 DOI: 10.1586/17474124.2013.816114]
24. Pietrangelo A. Hereditary hemochromatosis--a new look at an old disease. N Engl J Med 2004; 350: 2383-2397 [PMID: 15175440 DOI: 10.1056/NEJMra031573]
25. Cadet E, Capron D, Perez AS, Crépin SN, Arlot S, Ducroix JP, Dautréaux M, Fardellone P, Leflon P, Merryweather-Clarke AT, Livesey KJ, Pointon JJ, Rose P, Harcourt J, Emery J, Sueur JM, Feyt R, Robson KJ, Rochette J. A targeted approach significantly increases the identification rate of patients with undiagnosed haemochromatosis. J Intern Med 2003; 253: 217-224 [PMID:12542563 DOI: 10.1046/j.1365-2796.2003.01094.x]
26. Swinkels DW, Aalbers N, Elving LD, Bleijenberg G, Swanink CM, van der Meer JW. Primary haemochromatosis: a missed cause of chronic fatigue syndrome? Neth J Med 2002; 60: 429-433 [PMID: 12685490]
27. Adams PC, Deugnier Y, Moirand R, Brissot P. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology 1997; 25: 162-166 [PMID: 8985284 DOI: 10.1002/hep.510250130]
28. Niederau C, Fischer R, Pürschel A, Stremmel W, Häussinger D, Strohmeyer G. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology 1996; 110: 1107-1119 [PMID:8613000 DOI: 10.1053/gast.1996.v110.pm8613000]
29. Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeldt JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med 2005; 352:1769-1778 [PMID: 15858186 DOI: 10.1056/NEJMoa041534]
30. Bacon BR, Olynyk JK, Brunt EM, Britton RS, Wolff RK. HFE genotype in patients with hemochromatosis and other liver diseases. Ann Intern Med 1999; 130: 953-962 [PMID: 10383365 DOI: 10.7326/0003-4819-130-12-199906150-00002]
31. Timms AE, Sathananthan R, Bradbury L, Athanasou NA, Wordsworth BP, Brown MA. Genetic testing for haemochromatosis in patients with chondrocalcinosis. Ann Rheum Dis 2002; 61:745-747 [PMID: 12117686 DOI: 10.1136/ard.61.8.745]
32. European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol 2010; 53: 3-22 [PMID: 20471131 DOI: 10.1016/j. jhep.2010.03.001]
33. Harrison SA, Bacon BR. Hereditary hemochromatosis: update for 2003. J Hepatol 2003; 38 Suppl 1: S14-S23 [PMID: 12591183 DOI: 10.1016/S0168-8278(02)00428-2]
34. McLaren CE, Emond MJ, Subramaniam VN, Phatak PD, Barton JC, Adams PC, Goh JB, McDonald CJ, Powell LW, Gurrin LC, Allen KJ, Nickerson DA, Louie T, Ramm GA, Anderson GJ, McLaren GD. Exome sequencing in HFE C282Y homozygous men with extreme phenotypes identifies a GNPAT variant associated with severe iron overload. Hepatology 2015; 62: 429-439 [PMID:25605615 DOI: 10.1002/hep.27711]