The natural history of untreated HFE-related hemochromatosis

Acta Haematologica

Volumn 122, Issue 2-3, 2009, Pages 134-139

  Adams, Paul C ^a  

^a LONDON HEALTH SCIENCES CENTRE   (Canada)

Author keywords

Arthropathy; C282Y homozygosity; Hemochromatosis; HFE; Iron overload; Liver fibrosis; Phlebotomy

Indexed keywords

ADULT; CASE REPORT; CELIAC DISEASE; FEMALE; GENE MUTATION; HEMOCHROMATOSIS; HOMOZYGOTE; HUMAN; HUMAN TISSUE; IRON OVERLOAD; LABORATORY TEST; LIVER BIOPSY; PATHOGENESIS; PHLEBOTOMY; POPULATION; PRIORITY JOURNAL; REVIEW; SCREENING; SEROLOGY;

FEMALE; GENETIC TESTING; HEMOCHROMATOSIS; HISTOCOMPATIBILITY ANTIGENS CLASS I; HOMOZYGOTE; HUMANS; MEMBRANE PROTEINS; MIDDLE AGED;

EID: 70450218667     PISSN: 00015792     EISSN: None     Source Type: Journal    
DOI: 10.1159/000243797     Document Type: Review

References (29)

1. Adams PC, Barton JC: Haemochromatosis. Lancet 2007; 370: 1855-1860.
2. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R Jr, 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 hemochromatosis. Nat Genet 1996; 13: 399-408.
3. Edwards CQ, Griffen LM, Goldgar D, Drummond C, Skolnick MH, Kushner JP: Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. N Engl J Med 1988; 318: 1355-1362. (Pubitemid 18123876)
4. Beutler E, Felitti V, Koziol J, Ho N, Gelbart T: Penetrance of the 845G ] A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 2002; 359: 211-218.
5. Sheldon JH: Haemochromatosis. Oxford, Oxford Medical Publications, 1935, pp 164- 340.
6. 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 Eng J Med 2005; 352: 1769-1778.
7. Asberg A, Hveem K, Thorstensen K, Ellekjaer E, Kannelonning K, Fjosne U, Halvorsen TB, Smethurst HB, Sagen E, Bjerve KS: Screening for hemochromatosis - high prevalence and low morbidity in an unselected population of 65,238 persons. Scand J Gastroenterol 2001; 36: 1108-1115.
8. Deugnier Y, Jouanolle A, Chaperon J, Moirand R, Pithois C, Meyer J, Pouchard M, Lafraise B, Brigand A, Caserio-Schoenemann C, Mosser J, Adams P, Le Gall JY, David V: Gender-specific phenotypic expression and screening strategies in C282Ylinked haemochromatosis. Br J Haematol 2002; 118: 1170-1178.
9. Delatycki M, Allen K, Nisselle A, Collins V, Metcalfe S, du Sart D, Halliday J, Aitken MA, Macciocca I, Hill V, Wakefield A, Ritchie A, Gason AA, Nicoll AJ, Powell LW, Williamson R: Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet 2005; 366: 314-316.
10. Powell LW, Dixon JL, Ramm GA, Anderson GJ, Subramanian 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.
11. McLaren GD, McLaren CE, Adams PC, Barton JC, Reboussin DM, Gordeuk VR, Acton RT, Harris EL, Speechley MR, Sholinsky P, Dawkins FW, Snively BM, Vogt TM, Eckfeldt JH, Hemochromatosis and Iron Overload Screen (HEIRS) Study Research Investigators: Clinical manifestations of hemochromatosis in HFE C282Y homozygotes identified by screening. Can J Gastroenterol 2008; 22: 923-930.
12. Asberg A, Hveem K, Kruger O, Bjerve K: Persons with screening-detected haemochromatosis: as healthy as the general population? Scand J Gastroenterol 2002; 37: 719-724.
13. Olynyk J, Hagan S, Cullen D, Beilby J, Whittall D: Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc 2004; 79: 309-313.
14. Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG: Hemochromatosis mutations in the general population: iron overload progression rate. Blood 2004; 103: 2914-2919.
15. Pankow JS, Boerwinkle E, Adams PC, Guallar E, Leiendecker-Foster C, Rogowski J, Eckfeldt JH: HFE C282Y homozygotes have reduced low-density lipoprotein cholesterol: the Atherosclerosis Risk in Communities (ARIC) Study. Transl Res 2008; 152: 3-10.
16. Gurrin LC, Osborne NJ, Constantine CC, McLaren CE, English DR, Gertig DM, Delatycki MB, Southey MC, Hopper JL, Giles GG, Anderson GJ, Olynyk JK, Powell LW, Allen KJ: The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology 2008; 135: 1945-1952.
17. Barton J, McDonnell S, Adams PC, Brissot P, Powell L, Edwards C, Cook J, Kowdley K: Management of hemochromatosis. Ann Intern Med 1998; 129: 932-939.
18. Beaton M, Guyader D, Deugnier Y, Moirand R, Chakrabarti S, Adams P: Non-invasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology 2002; 36: 673-678.
19. Waalen J, Felitti VJ, Gelbart T, Beutler E: Screening for hemochromatosis by measuring ferritin levels: a more effective approach. Blood 2008; 111: 3373-3376.
20. Beaton M, Adams PC: Assessment of silent liver fibrosis in hemochromatosis C282Y homozygotes with normal transaminase levels. Clin Gastroenterol Hepatol 2008; 6: 713-714.
21. Adams PC, Kertesz AE, Valberg LS: Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. J Clin Gastroenterol 1993; 16: 207-210.
22. Ganz T: Iron homeostasis: fitting the puzzle pieces together. Cell Metab 2008; 7: 288-290
23. Beutler E: Natural history of hemochromatosis. Mayo Clin Proc 2004; 79: 305-306.
24. Beutler E: The HFE Cys282Tyr mutation as a necessary but not sufficient cause of clinical hereditary hemochromatosis. Blood 2003; 101: 3347-3350.
25. Lee PL, Barton JC, Brandhagen D, Beutler E: Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis. Br J Haematol 2004; 127: 224-229.
26. Truksa J, Peng H, Lee P, Beutler E: Bone morphogenetic proteins 2, 4, and 9 stimulate murine hepcidin 1 expression independently of Hfe, transferrin receptor 2 (Tfr2), and IL-6. Proc Natl Acad Sci USA 2006; 103: 10289-10293.
27. Beutler E, Barton J, Felitti V, Gelbart T, West C, Lee P, Lee PL, Waalen J, Vulpe C: Ferroportin 1 (SCL40A1) variant associated with iron overload in African-Americans. Blood Cells Mol Dis 2003; 31: 305-309.
28. Lee P, Gelbart T, West C, Halloran C, Felitti V, Beutler E: A study of genes that may modulate the expression of hereditary hemochromatosis: transferrin receptor-1, ferroportin, ceruloplasmin, ferritin light and heavy chains, iron regulatory proteins (IRP)- 1 and -2, and hepcidin. Blood Cells Mol Dis 2001; 27: 783-802.
29. Whitlock E, Garlitz B, Harris EL, Beil TL, Smith PR: Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med 2006; 145: 209-223.