Hemochromatosis Questions & Answers

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2. McCullen MA, Crawford DH, Hickman PE. Screening for hemochromatosis. Clin Chim Acta. 2002 Jan. 315(1-2):169-86. [QxMD MEDLINE Link].

3. O'Reilly FM, Darby C, Fogarty J, et al. Screening of patients with iron overload to identify hemochromatosis and porphyria cutanea tarda. Arch Dermatol. 1997 Sep. 133(9):1098-101. [QxMD MEDLINE Link].

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7. [Guideline] 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 Jul. 54(1):328-43. [QxMD MEDLINE Link]. [Full Text].

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10. Seravalle G, Piperno A, Mariani R, et al. Alterations in sympathetic nerve traffic in genetic haemochromatosis before and after iron depletion therapy: a microneurographic study. Eur Heart J. 2016 Mar 21. 37(12):988-95. [QxMD MEDLINE Link].

11. Gattermann N. The treatment of secondary hemochromatosis. Dtsch Arztebl Int. 2009 Jul. 106(30):499-504, I. [QxMD MEDLINE Link]. [Full Text].

12. Janssen MC, Swinkels DW. Hereditary haemochromatosis. Best Pract Res Clin Gastroenterol. 2009. 23(2):171-83. [QxMD MEDLINE Link].

13. Piubelli C, Castagna A, Marchi G, et al. Identification of new BMP6 pro-peptide mutations in patients with iron overload. Am J Hematol. 2017 Mar 23. [QxMD MEDLINE Link].

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15. Wang L, Johnson EE, Shi HN, Walker WA, Wessling-Resnick M, Cherayil BJ. Attenuated inflammatory responses in hemochromatosis reveal a role for iron in the regulation of macrophage cytokine translation. J Immunol. 2008 Aug 15. 181(4):2723-31. [QxMD MEDLINE Link]. [Full Text].

16. Conrad ME, Umbreit JN, Moore EG. Iron absorption and transport. Am J Med Sci. 1999 Oct. 318(4):213-29. [QxMD MEDLINE Link].

17. Parkkila S, Niemela O, Britton RS, et al. Molecular aspects of iron absorption and HFE expression. Gastroenterology. 2001 Dec. 121(6):1489-96. [QxMD MEDLINE Link].

18. Rolfs A, Bonkovsky HL, Kohlroser JG, et al. Intestinal expression of genes involved in iron absorption in humans. Am J Physiol Gastrointest Liver Physiol. 2002 Apr. 282(4):G598-607. [QxMD MEDLINE Link].

19. Papanikolaou G, Samuels ME, Ludwig EH, et al. Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis. Nat Genet. 2004 Jan. 36(1):77-82. [QxMD MEDLINE Link].

20. Papanikolaou G, Politou M, Roetto A, et al. Linkage to chromosome 1q in Greek families with juvenile hemochromatosis. Blood Cells Mol Dis. 2001 Jul-Aug. 27(4):744-9. [QxMD MEDLINE Link].

21. Babitt JL, Huang FW, Wrighting DM, et al. Bone morphogenetic protein signaling by hemojuvelin regulates hepcidin expression. Nat Genet. 2006 May. 38(5):531-9. [QxMD MEDLINE Link].

22. Park CH, Valore EV, Waring AJ, et al. Hepcidin, a urinary antimicrobial peptide synthesized in the liver. J Biol Chem. 2001 Mar 16. 276(11):7806-10. [QxMD MEDLINE Link].

23. Fleming RE, Britton RS, Waheed A, et al. Pathogenesis of hereditary hemochromatosis. Clin Liver Dis. 2004 Nov. 8(4):755-73, vii. [QxMD MEDLINE Link].

24. Montosi G, Donovan A, Totaro A, et al. Autosomal-dominant hemochromatosis is associated with a mutation in the ferroportin (SLC11A3) gene. J Clin Invest. 2001 Aug. 108(4):619-23. [QxMD MEDLINE Link]. [Full Text].

25. Himmelmann A, Fehr J. Cloning of the hereditary hemochromatosis gene: implications for pathogenesis, diagnosis, and screening. J Lab Clin Med. 1999 Mar. 133(3):229-36. [QxMD MEDLINE Link].

26. Bittencourt PL, Marin ML, Couto CA, et al. Analysis of HFE and non-HFE gene mutations in Brazilian patients with hemochromatosis. Clinics (Sao Paulo). 2009. 64(9):837-41. [QxMD MEDLINE Link]. [Full Text].

27. Ramrakhiani S, Bacon BR. Hemochromatosis: advances in molecular genetics and clinical diagnosis. J Clin Gastroenterol. 1998 Jul. 27(1):41-6. [QxMD MEDLINE Link].

28. Gochee PA, Powell LW, Cullen DJ, et al. A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. Gastroenterology. 2002 Mar. 122(3):646-51. [QxMD MEDLINE Link].

29. Gurrin LC, Bertalli NA, Dalton GW, et al. HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. Hepatology. 2009 Jul. 50(1):94-101. [QxMD MEDLINE Link].

30. Wallace DF, Walker AP, Pietrangelo A, et al. Frequency of the S65C mutation of HFE and iron overload in 309 subjects heterozygous for C282Y. J Hepatol. 2002 Apr. 36(4):474-9. [QxMD MEDLINE Link].

31. Solanas-Barca M, Mateo-Gallego R, Calmarza P, et al. Mutations in HFE causing hemochromatosis are associated with primary hypertriglyceridemia. J Clin Endocrinol Metab. 2009 Nov. 94(11):4391-7. [QxMD MEDLINE Link].

32. Bridle KR, Frazer DM, Wilkins SJ, et al. Disrupted hepcidin regulation in HFE-associated haemochromatosis and the liver as a regulator of body iron homoeostasis. Lancet. 2003 Feb 22. 361(9358):669-73. [QxMD MEDLINE Link].

33. Muckenthaler M, Roy CN, Custodio AO, et al. Regulatory defects in liver and intestine implicate abnormal hepcidin and Cybrd1 expression in mouse hemochromatosis. Nat Genet. 2003 May. 34(1):102-7. [QxMD MEDLINE Link].

34. Nemeth E, Roetto A, Garozzo G, et al. Hepcidin is decreased in TFR2 hemochromatosis. Blood. 2005 Feb 15. 105(4):1803-6. [QxMD MEDLINE Link].

35. Gehrke SG, Kulaksiz H, Herrmann T, et al. Expression of hepcidin in hereditary hemochromatosis: evidence for a regulation in response to the serum transferrin saturation and to non-transferrin-bound iron. Blood. 2003 Jul 1. 102(1):371-6. [QxMD MEDLINE Link].

36. Hattori A, Wakusawa S, Hayashi H, et al. AVAQ 594-597 deletion of the TfR2 gene in a Japanese family with hemochromatosis. Hepatol Res. 2003 Jun. 26(2):154-156. [QxMD MEDLINE Link].

37. Kawabata H, Fleming RE, Gui D, et al. Expression of hepcidin is down-regulated in TfR2 mutant mice manifesting a phenotype of hereditary hemochromatosis. Blood. 2005 Jan 1. 105(1):376-81. [QxMD MEDLINE Link].

38. Powell LW. Diagnosis of hemochromatosis. Semin Gastrointest Dis. 2002 Apr. 13(2):80-8. [QxMD MEDLINE Link].

39. Steinberg KK, Cogswell ME, Chang JC, et al. Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States. JAMA. 2001 May 2. 285(17):2216-22. [QxMD MEDLINE Link].

40. Merryweather-Clarke AT, Pointon JJ, Shearman JD, Robson KJ. Global prevalence of putative haemochromatosis mutations. J Med Genet. 1997 Apr. 34(4):275-8. [QxMD MEDLINE Link]. [Full Text].

41. Byrnes V, Ryan E, Barrett S, Kenny P, Mayne P, Crowe J. Genetic hemochromatosis, a Celtic disease: is it now time for population screening?. Genet Test. 2001 Summer. 5(2):127-30. [QxMD MEDLINE Link].

42. Wood MJ, Skoien R, Powell LW. The global burden of iron overload. Hepatol Int. 2009 Sep. 3(3):434-44. [QxMD MEDLINE Link]. [Full Text].

43. Gochee PA, Powell LW. What's new in hemochromatosis. Curr Opin Hematol. 2001 Mar. 8(2):98-104. [QxMD MEDLINE Link].

44. Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999 Sep 2. 341(10):718-24. [QxMD MEDLINE Link].

45. Gehrke SG, Pietrangelo A, Kascak M, et al. HJV gene mutations in European patients with juvenile hemochromatosis. Clin Genet. 2005 May. 67(5):425-8. [QxMD MEDLINE Link].

46. Adams PC, Barton JC. Haemochromatosis. Lancet. 2007 Dec 1. 370(9602):1855-60. [QxMD MEDLINE Link].

47. Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005 Apr 28. 352(17):1769-78. [QxMD MEDLINE Link].

48. Gleeson F, Ryan E, Barrett S, et al. Clinical expression of haemochromatosis in Irish C282Y homozygotes identified through family screening. Eur J Gastroenterol Hepatol. 2004 Sep. 16(9):859-63. [QxMD MEDLINE Link].

49. Acton RT, Barton JC, Bell DS, Go RC, Roseman JM. HFE mutations in African-American women with non-insulin-dependent diabetes mellitus. Ethn Dis. 2001 Fall. 11(4):578-84. [QxMD MEDLINE Link].

50. Allen KJ, Gurrin LC, Constantine CC, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008 Jan 17. 358(3):221-30. [QxMD MEDLINE Link].

51. Warne CD, Zaloumis SG, Bertalli NA, et al, HealthIron Study Investigators. HFE p.C282Y homozygosity predisposes to rapid serum ferritin rise after menopause: A genotype-stratified cohort study of hemochromatosis in Australian women. J Gastroenterol Hepatol. 2017 Apr. 32 (4):797-802. [QxMD MEDLINE Link].

52. Barton JC, Wiener HW, Acton RT, et al. HLA haplotype A*03-B*07 in hemochromatosis probands with HFE C282Y homozygosity: frequency disparity in men and women and lack of association with severity of iron overload. Blood Cells Mol Dis. 2005 Jan-Feb. 34(1):38-47. [QxMD MEDLINE Link].

53. Rivers CA, Barton JC, Gordeuk VR, et al. Association of ferroportin Q248H polymorphism with elevated levels of serum ferritin in African Americans in the Hemochromatosis and Iron Overload Screening (HEIRS) Study. Blood Cells Mol Dis. 2007 May-Jun. 38(3):247-52. [QxMD MEDLINE Link].

54. Bulaj ZJ, Ajioka RS, Phillips JD, et al. Disease-related conditions in relatives of patients with hemochromatosis. N Engl J Med. 2000 Nov 23. 343(21):1529-35. [QxMD MEDLINE Link].

55. Moirand R, Adams PC, Bicheler V, Brissot P, Deugnier Y. Clinical features of genetic hemochromatosis in women compared with men. Ann Intern Med. 1997 Jul 15. 127(2):105-10. [QxMD MEDLINE Link].

56. Niederau C, Strohmeyer G, Stremmel W. Epidemiology, clinical spectrum and prognosis of hemochromatosis. Adv Exp Med Biol. 1994. 356:293-302. [QxMD MEDLINE Link].

57. Milman N, Pedersen P, a Steig T, Byg KE, Graudal N, Fenger K. Clinically overt hereditary hemochromatosis in Denmark 1948-1985: epidemiology, factors of significance for long-term survival, and causes of death in 179 patients. Ann Hematol. 2001 Dec. 80(12):737-44. [QxMD MEDLINE Link].

58. Yang Q, McDonnell SM, Khoury MJ, Cono J, Parrish RG. Hemochromatosis-associated mortality in the United States from 1979 to 1992: an analysis of Multiple-Cause Mortality Data. Ann Intern Med. 1998 Dec 1. 129(11):946-53. [QxMD MEDLINE Link].

59. Bathum L, Christiansen L, Nybo H, et al. Association of mutations in the hemochromatosis gene with shorter life expectancy. Arch Intern Med. 2001 Nov 12. 161(20):2441-4. [QxMD MEDLINE Link].

60. Bothwell TH, MacPhail AP. Hereditary hemochromatosis: etiologic, pathologic, and clinical aspects. Semin Hematol. 1998 Jan. 35(1):55-71. [QxMD MEDLINE Link].

61. Smith BC, Gorve J, Guzail MA, et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology. 1998 Jun. 27(6):1695-9. [QxMD MEDLINE Link].

62. Martinelli AL, Franco RF, Villanova MG, et al. Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection?. Acta Haematol. 2000. 102(3):152-6. [QxMD MEDLINE Link].

63. George DK, Goldwurm S, MacDonald GA, et al. Increased hepatic iron concentration in nonalcoholic steatohepatitis is associated with increased fibrosis. Gastroenterology. 1998 Feb. 114(2):311-8. [QxMD MEDLINE Link].

64. Bonkovsky HL, Jawaid Q, Tortorelli K, et al. Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol. 1999 Sep. 31(3):421-9. [QxMD MEDLINE Link].

65. O'Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH. Declining prevalence of diabetes mellitus in hereditary haemochromatosis--the result of earlier diagnosis. Diabetes Res Clin Pract. 2008 Sep. 81(3):316-20. [QxMD MEDLINE Link].

66. Bailey EJ, Gardner AB. Hemochromatosis of the foot and ankle. Report of three cases and review of the literature. Clin Orthop Relat Res. 1998 Apr. 108-15. [QxMD MEDLINE Link].

67. Ellervik C, Tybjaerg-Hansen A, Grande P, Appleyard M, Nordestgaard BG. Hereditary hemochromatosis and risk of ischemic heart disease: a prospective study and a case-control study. Circulation. 2005 Jul 12. 112(2):185-93. [QxMD MEDLINE Link].

68. Barton JC, Acton RT. Hemochromatosis and Vibrio vulnificus wound infections. J Clin Gastroenterol. 2009 Oct. 43(9):890-3. [QxMD MEDLINE Link].

69. Brittenham GM, Weiss G, Brissot P, et al. Clinical consequences of new insights in the pathophysiology of disorders of iron and heme metabolism. Hematology Am Soc Hematol Educ Program. 2000. 39-50. [QxMD MEDLINE Link].

70. Qaseem A, Aronson M, Fitterman N, et al. Screening for hereditary hemochromatosis: a clinical practice guideline from the American College of Physicians. Ann Intern Med. 2005 Oct 4. 143(7):517-21. [QxMD MEDLINE Link].

71. Bacon BR. Hemochromatosis: diagnosis and management. Gastroenterology. 2001 Feb. 120(3):718-25. [QxMD MEDLINE Link].

72. Pawlowski M, Latute F, Bardou-Jacquet E, et al. Portable hemoglobinometer is a reliable technology for the follow-up of venesections tolerance in hemochromatosis. Clin Res Hepatol Gastroenterol. 2015 Oct. 39 (5):570-5. [QxMD MEDLINE Link].

73. Brandhagen DJ, Fairbanks VF, Baldus W. Recognition and management of hereditary hemochromatosis. Am Fam Physician. 2002 Mar 1. 65(5):853-60. [QxMD MEDLINE Link].

74. Morrison ED, Brandhagen DJ, Phatak PD, et al. Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Ann Intern Med. 2003 Apr 15. 138(8):627-33. [QxMD MEDLINE Link].

75. Powell LW, Subramaniam VN, Yapp TR. Haemochromatosis in the new millennium. J Hepatol. 2000. 32(1 Suppl):48-62. [QxMD MEDLINE Link].

76. McDonnell SM, Witte DL, Cogswell ME, et al. Strategies to increase detection of hemochromatosis. Ann Intern Med. 1998 Dec 1. 129(11):987-92. [QxMD MEDLINE Link].

77. Powell LW, George DK, McDonnell SM, et al. Diagnosis of hemochromatosis. Ann Intern Med. 1998 Dec 1. 129(11):925-31. [QxMD MEDLINE Link].

78. Turlin B, Deugnier Y. Evaluation and interpretation of iron in the liver. Semin Diagn Pathol. 1998 Nov. 15(4):237-45. [QxMD MEDLINE Link].

79. Morcos M, Dubois S, Bralet MP, Belghiti J, Degott C, Terris B. Primary liver carcinoma in genetic hemochromatosis reveals a broad histologic spectrum. Am J Clin Pathol. 2001 Nov. 116(5):738-43. [QxMD MEDLINE Link].

80. Brissot P. Optimizing the diagnosis and the treatment of iron overload diseases. Expert Rev Gastroenterol Hepatol. 2016. 10(3):359-70. [QxMD MEDLINE Link].

81. Durupt S, Durieu I, Nove-Josserand R, Bencharif L, Rousset H, Vital Durand D. [Hereditary hemochromatosis]. Rev Med Interne. 2000 Nov. 21(11):961-71. [QxMD MEDLINE Link].

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84. Brissot P, Troadec MB, Bardou-Jacquet E, et al. Current approach to hemochromatosis. Blood Rev. 2008 Jul. 22(4):195-210. [QxMD MEDLINE Link].

85. van Aerts RM, van Deursen CT, Koek GH. Proton pump inhibitors reduce the frequency of phlebotomy in patients with hereditary hemochromatosis. Clin Gastroenterol Hepatol. 2016 Jan. 14(1):147-52. [QxMD MEDLINE Link].

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87. Barton JC, McDonnell SM, Adams PC, et al. Management of hemochromatosis. Hemochromatosis Management Working Group. Ann Intern Med. 1998 Dec 1. 129(11):932-9. [QxMD MEDLINE Link].

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89. Nick H, Allegrini PR, Fozard L, et al. Deferasirox reduces iron overload in a murine model of juvenile hemochromatosis. Exp Biol Med (Maywood). 2009 May. 234(5):492-503. [QxMD MEDLINE Link].

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91. Emara AM, El Kelany RS, Moustafa KA. Comparative study of the protective effect between deferoxamine and deferiprone on chronic iron overload induced cardiotoxicity in rats. Hum Exp Toxicol. 2006 Jul. 25(7):375-85. [QxMD MEDLINE Link].

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98. Wojcik JP, Speechley MR, Kertesz AE, et al. Natural history of C282Y homozygotes for hemochromatosis. Can J Gastroenterol. 2002 May. 16(5):297-302. [QxMD MEDLINE Link].

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Andrea Duchini, MD Associate Professor of Medicine and Surgery, Director of Hepatology, University of Texas Medical Branch School of Medicine; Medical Director of Liver Transplantation, Department of Surgery, University of Texas Medical Branch School of Medicine

Andrea Duchini, MD is a member of the following medical societies: American College of Physicians, International Liver Transplantation Society, American Gastroenterological Association, American Society for Gastrointestinal Endoscopy

Disclosure: Nothing to disclose.

Hady E Sfeir, MD Clinical Assistant Professor of Medicine, Department of Internal Medicine, OSF St Francis Medical Center

Hady E Sfeir, MD is a member of the following medical societies: American Association of Clinical Endocrinologists, American Medical Association

Disclosure: Nothing to disclose.

David M Klachko, MD, MEd Professor Emeritus, Department of Internal Medicine, Division of Endocrinology, Diabetes, and Metabolism, University of Missouri-Columbia School of Medicine

David M Klachko, MD, MEd is a member of the following medical societies: Alpha Omega Alpha, Missouri State Medical Association, American College of Physicians-American Society of Internal Medicine, American Diabetes Association, American Federation for Medical Research, Endocrine Society, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Praveen K Roy, MD, MSc Clinical Assistant Professor of Medicine, University of New Mexico School of Medicine

Praveen K Roy, MD, MSc is a member of the following medical societies: Alaska State Medical Association, American Gastroenterological Association

Disclosure: Nothing to disclose.

Vivek V Gumaste, MD Associate Professor of Medicine, Mount Sinai School of Medicine of New York University; Adjunct Clinical Assistant, Mount Sinai Hospital; Director, Division of Gastroenterology, City Hospital Center

Vivek V Gumaste, MD is a member of the following medical societies: American College of Gastroenterology and American Gastroenterological Association

Disclosure: Nothing to disclose.

Douglas M Heuman, MD, FACP, FACG, AGAF Chief of GI, Hepatology, and Nutrition at North Shore University Hospital/Long Island Jewish Medical Center; Professor, Department of Medicine, Hofstra North Shore-LIJ School of Medicine

Douglas M Heuman, MD, FACP, FACG, AGAF is a member of the following medical societies: American Association for the Study of Liver Diseases, American College of Physicians, and American Gastroenterological Association

Disclosure: Novartis Grant/research funds Other; Bayer Grant/research funds Other; Otsuka Grant/research funds None; Bristol Myers Squibb Grant/research funds Other; Scynexis None None; Salix Grant/research funds Other; MannKind Other

Francisco Talavera, PharmD, PhD Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

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