Yamada’s Textbook of Gastroenterology

Sixth Edition

Edited by Daniel K. Podolsky,
Michael Camilleri, J. Gregory Fitz,
Anthony N. Kalloo, Fergus Shanahan, Timothy C. Wang

References

Hemochromatosis

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2. LucotteG, DieterlenF. A European allele map of the C282Y mutation of hemochromatosis: Celtic versus Viking origin of the mutation?Blood Cells Mol Dis2003;31:262. CrossRef

3. MuckenthalerM, RoyC, CustodioA, et al.Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 in mouse hemochromatosis. Nat Genet2003;34:102. CrossRef

4. YamajiS, SharpP, RameshB, et al.Inhibition of iron transport across human intestinal epithelial cells by hepcidin. Blood2004;104:2178. CrossRef

5. ValentiL, FracanzaniAL, RamettaR, et al.Effect of the A736V TMPRSS6 polymorphism on the penetrance and clinical expression of hereditary hemochromatosis. J Hepatol2012;57:1319. CrossRef

6. EllervikC, BirgensH, Tybjaerg‐HansenA, et al.Hemochromatosis genotypes and risk of 31 disease endpoints: Meta‐analyses including 66,000 cases and 226,000 controls. Hepatology2007;46:1071. CrossRef

7. BeutlerE, FelittiV, KoziolJ, et al.Penetrance of the 845G to A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet2002;359:211. CrossRef

8. McLarenGD, McLarenCE, AdamsPC, et al.Clinical manifestations of hemochromatosis in HFE homozygotes identified by screening. Can J Gastroenterol2008;22:923.

9. AsbergA, HveemK, KrugerO, et al.Persons with screening‐detected haemochromatosis: as healthy as the general population?Scand J Gastroenterol2002;37:719. CrossRef

10. NeghinaAM, AnghelA. Hemochromatosis genotypes and risk of iron overload–a meta‐analysis. Ann Epidemiol2011;21:1. CrossRef

11. AllenKJ, GurrinLC, ConstantineCC, et al.Iron‐overload‐related disease in HFE hereditary hemochromatosis. N Engl J Med2008;358:221. CrossRef

12. AdamsPC. The natural history of untreated HFE‐related hemochromatosis. Acta Haematol2009;122:134. CrossRef

13. GurrinLC, OsborneNJ, ConstantineCC, et al.The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology2008;135:1945. CrossRef

14. BaconB, AdamsP, KowdleyK, et al.Diagnosis and management of hemochromatosis: AASLD Practice Guidelines. Hepatology2011;54:328. CrossRef

15. European Association for the Study of the Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol2010;53:3. CrossRef

16. AdamsP, ZaccaroD, MosesG, et al.Comparison of the unsaturated iron binding capacity with transferrin saturation as a screening test to detect C282Y homozygotes for hemochromatosis in 101,168 participants in the HEIRS study. Clin Chem2005;51:1048. CrossRef

17. AdamsPC, ReboussinDM, PressRD, et al.Biological variability of transferrin saturation and unsaturated iron binding capacity. Am J Med2007;120:999.e1. CrossRef

18. BeatonMD, AdamsPC. Treatment of hyperferritinemia. Ann Hepatol2012;11:294.

19. BrissotP, BourelM, HerryD, et al.Assessment of liver iron content in 271 patients: a reevaluation of direct and indirect methods. Gastroenterology1981;80:557.

20. RoettoA, BosioS, GramagliaE, et al.Pathogenesis of hyperferritinemia cataract syndrome. Blood Cells Mol Dis2002;29:532. CrossRef

21. GuyaderD, JacquelinetC, MoirandR, et al.Non‐invasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology1998;115:929. CrossRef

22. BeatonM, GuyaderD, DeugnierY, et al.Non‐invasive prediction of cirrhosis in C282Y‐linked hemochromatosis. Hepatology2002;36:673. CrossRef

23. CrawfordDH, MurphyTL, RammLE, et al.Serum hyaluronic acid with serum ferritin accurately predicts cirrhosis and reduces the need for liver biopsy in C282Y hemochromatosis. Hepatology2009;49:418. CrossRef

24. AdhouteX, FoucherJ, LaharieD, et al.Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study. Gastroenterol Clin Biol2008;32:180. CrossRef

25. GandonY, OlivieD, GuyaderD, et al.Non‐invasive assessment of hepatic iron stores by MRI. Lancet2004;363:357. CrossRef

26. St PierreT, ClarkP, Chua‐anusornW, et al.Noninvasive measurement and imaging of liver iron concentrations using proton magnetic resonance. Blood2005;105:855. CrossRef

27. BurkeW, ThomsonE, KhouryM, et al.Hereditary hemochromatosis: gene discovery and its implications for population‐based screening. JAMA1998;280:172. CrossRef

28. AdamsPC, ReboussinDM, BartonJC, et al.Hemochromatosis and iron‐overload screening in a racially diverse population. N Engl J Med2005;352:1769. CrossRef

29. ShaheenN, LawrenceL, BaconB, et al.Insurance, employment, and psychosocial consequences of a diagnosis of hereditary hemochromatosis in subjects without end‐organ damage. Am J Gastroenterol2003;98:1175. CrossRef

30. HallMA, BartonJC, AdamsPC, et al.Genetic screening for iron overload: no evidence of discrimination at one year. J Fam Pract2007;56:829.

31. HarrisEL, McLarenCE, ReboussinDM, et al.Serum ferritin and transferrin saturation in Asians and Pacific Islanders. Arch Intern Med2007;167:722. CrossRef

32. BartonJC, EdwardsCQ, BertoliLF, et al.Iron overload in African Americans. Am J Med1995;99:616. CrossRef

33. PietrangeloA. Non‐HFE hemochromatosis. Semin Liver Dis2005;25:450. CrossRef

34. NjajouO, DejongG, BerghuisB, et al.Dominant hemochromatosis due to N144H mutation of SLC11A3: Clinical and biological characteristics. Blood Cells Mol Dis2002;29:439. CrossRef

35. WallaceD, PedersenP, DixonJ, et al.Novel mutation in ferroportin 1 is associated with autosomal dominant hemochromatosis. Blood2002;100:692. CrossRef

36. HellmanN, SchaeferM, GehrkeS, et al.Hepatic iron overload in aceruloplasminemia. Gut2003;47:858. CrossRef

37. PapanikolaouG, SamuelsM, LudwigE, et al.Mutations in HFE2 cause iron overload in chromosome 1q‐linked juvenile hemochromatosis. Nat Genet2004;36:77. CrossRef

38. CamaschellaC, RoettoA, CaliA, et al.The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet2000;25:14. CrossRef

39. AdamsPC, BartonJC. How I treat hemochromatosis. Blood2010;116:317. CrossRef

40. BeutlerE. Natural history of hemochromatosis. Mayo Clin Proc2004;79:305. CrossRef

41. AdamsPC, KerteszAE, ValbergLS. Rate of iron reaccumulation following iron depletion in hereditary hemochromatosis. Implications for venesection therapy. J Clin Gastroenterol1993;16:207. CrossRef

42. PhatakP, BrissotP, BonkovskyH, et al.A phase I/II, open‐label, dose‐escalation trial of once daily oral chelator deferasirox to treat iron overload in HFE‐related hereditary hemochromatosis. Hepatology2010;52:1671. CrossRef

43. GordeukVR, LovatoL, BartonJ, et al.Dietary iron intake and serum ferritin concentration in 213 patients homozygous for the HFEC282Y hemochromatosis mutation. Can J Gastroenterol2012;26:345.

44. OlssonK, VaisanenM, KonarJ, et al.The effect of withdrawal of food iron fortification in Sweden as studied with phlebotomy in subjects with genetic hemochromatosis. Eur J Clin Nutr1998;51:782. CrossRef

45. CrawfordD, FletcherL, HubscherS, et al.Patient and graft survival after liver transplantation for hereditary hemochromatosis: implications for pathogenesis. Hepatology2004;39:1655. CrossRef

46. AdamsPC, SpeechleyM, BartonJC, et al.Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study. Hepatology2012;55:1722. CrossRef

47. AdamsPC. Hepatocellular carcinoma in hereditary hemochromatosis. Can J Gastroenterol1993;7:37.

48. ShermanM. Whither hepatocellular carcinoma screening?Hepatology2012;56:2412. CrossRef

49. McClainD, AbrahamD, RogersJ, et al.High prevalence of abnormal glucose homeostasis secondary to decreased insulin secretion in individuals with hereditary haemochromatosis. Diabetologia2006;49:1661. CrossRef

50. HramiakI, FinegoodD, AdamsPC. Factors affecting glucose tolerance in hereditary hemochromatosis. Clin Invest Med1997;20:110.

51. MendlerMH, TurlinB, MoirandR, et al.Insulin resistance‐associated hepatic iron overload. Gastroenterology1999;117:1155. CrossRef

52. AdamsPC, DeugnierY, MoirandR, et al.The relationship between iron overload, clinical symptoms and age in 410 patients with genetic hemochromatosis. Hepatology1997;25:162. CrossRef

53. AdamsPC, PankowJ, BartonJC, et al.HFE C282Y homozygosity is associated with lower total and LDL cholesterol: the hemochromatosis and iron overload screening (HEIRS) study. Circ Cardiovasc Genet2009;2:34. CrossRef

54. DallosT, SahinbegovicE, StammT, et al.Idiopathic hand osteoarthritis vs haemochromatosis arthropathy–a clinical, functional and radiographic study. Rheumatology (Oxford)2013; Jan 12.

55. AdamsPC, SpeechleyM. The effect of arthritis on the quality of life in hereditary hemochromatosis. J Rheumatol1996;23:707.

56. MohammadA, CareyJJ, StoranE, et al.High prevalence of fibromyalgia in patients with HFE‐related hereditary hemochromatosis. J Clin Gastroenterol2012; Dec 13.

57. PratiwiR, FletcherLM, PyperWR, et al.Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression. J Hepatol1999;31:39. CrossRef

58. RogowskiW. The cost‐effectiveness of screening for hereditary hemochromatosis in Germany: a remodeling study. Med Decis Making2009;29:224. CrossRef

59. AdamsPC, BartonJC, McLarenGD, et al.Screening for iron overload: lessons from the HEIRS study. Can J Gastroenterol2009;23:771.

60. AdamsP, ActonR, WalkerA. A primer for predicting risk of disease in HFE‐linked hemochromatosis. Genet Test2001;5:311. CrossRef

61. AdamsPC, KerteszA, ValbergLS. Screening for hemochromatosis in children of homozygotes: prevalence and cost‐effectiveness. Hepatology1995;22:1720.

62. AlexanderJ, KowdleyKV. Hereditary hemochromatosis: genetics, pathogenesis, and clinical management. Ann Hepatol2005;4:240.

63. GurrinLC, BertalliNA, DaltonGW, et al.HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis‐related morbidity. Hepatology2009;50:94. CrossRef