Haemochromatosis

References

Key articles

Kowdley KV, Brown KE, Ahn J, et al. Correction: ACG Clinical Guideline: Hereditary Hemochromatosis. Am J Gastroenterol. 2019 Dec;114(12):1927.Full text  Abstract

European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010 Jul;53(1):3-22.Full text  Abstract

Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006;36-41. Abstract

Griffiths WJ. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther. 2007 Aug 1;26(3):331-42.Full text  Abstract

Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). Jul 2005 [internet publication].Full text

U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006 Aug 1;145(3):204-8.Full text  Abstract

Bacon BR, Adams PC, Kowdley KV, et al. 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.Full text  Abstract

Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol. 2018 May;181(3):293-303.Full text  Abstract

Bryant J, Cooper K, Picot J, et al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess. 2009 Apr;13(23):iii, ix-xi, 1-126.Full text  Abstract

Bacon BR, Adams PC, Kowdley KV, et al. 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.Full text  Abstract

Reference articles

1. McCune CA, Ravine D, Carter K, et al. Iron loading and morbidity among relatives of HFE C282Y homozygotes identified either by population genetic testing or presenting as patients. Gut. 2006 Apr;55(4):554-62. Abstract

2. Kowdley KV, Brown KE, Ahn J, et al. Correction: ACG Clinical Guideline: Hereditary Hemochromatosis. Am J Gastroenterol. 2019 Dec;114(12):1927.Full text  Abstract

3. Olynyk JK, Cullen DJ, Aquilia S, et al. A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999 Sep 2;341(10):718-24. Abstract

4. European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. J Hepatol. 2010 Jul;53(1):3-22.Full text  Abstract

5. Whitlock EP, Garlitz BA, Harris EL, et al. Screening for hereditary hemochromatosis: a systematic review for the U.S. Preventive Services Task Force. Ann Intern Med. 2006 Aug 1;145(3):209-23. Abstract

6. Pérez R, Toro D, Fournier J, et al. Prevalence of hemochromatosis in the Puerto Rico veteran population. P R Health Sci J. 2007 Jun;26(2):147-50. Abstract

7. Pietrangelo A. Hereditary hemochromatosis. Biochim Biophys Acta. 2006 Jul;1763(7):700-10. Abstract

8. Terzić R, Sehić A, Teran N, et al. Frequency of HFE gene mutations C282Y and H63D in Bosnia and Herzegovina. Coll Antropol. 2006 Sep;30(3):555-7. Abstract

9. Cimburova M, Putova I, Provaznikova H, et al. S65C and other mutations in the haemochromatosis gene in the Czech population. Folia Biol (Praha). 2005;51(6):172-6.Full text  Abstract

10. Leone PE, Giménez P, Collantes JC, et al. Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population. Ann Hematol. 2005 Feb;84(2):103-5. Abstract

11. Scotet V, Le Gac G, Mérour MC, et al. Impact of HFE genetic testing on clinical presentation of hereditary hemochromatosis: new epidemiological data. BMC Med Genet. 2005 Jun 1;6:24.Full text  Abstract

12. Pardo A, Quintero E, Barrios Y, et al. Genotype and phenotypic expression of hereditary hemochromatosis in Spain [in Spanish]. Gastroenterol Hepatol 2004 Oct;27(8):437-43. Abstract

13. Sassi R, Hmida S, Kaabi H, et al. Prevalence of C282Y and H63D mutations in the haemochromatosis (HFE) gene in Tunisian population. Ann Genet. 2004 Oct-Dec;47(4):325-30. Abstract

14. Wrede CE, Hutzler S, Bollheimer LC, et al. Correlation between iron status and genetic hemochromatosis (codon C282Y) in a large German population. Isr Med Assoc J. 2004 Jan;6(1):30-33.Full text  Abstract

15. Milman N, Pedersen P, Steig T, et al. Frequencies of the hereditary hemochromatosis allele in different populations: comparison of previous phenotypic methods and novel genotypic methods. Int J Hematol. 2003 Jan;77(1):48-54. Abstract

16. 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.Full text  Abstract

17. Lee GR, Foerster J, Lukens J, et al. Wintrobe's clinical hematology. 1999. Philadelphia, PA: Lippincott, Williams & Wilkins; 2004.

18. Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996 Aug;13(4):399-408. Abstract

19. Gane EJ. The impact of research on haemochromatosis and liver transplantation in the Asia-Pacific region. Abstract of the 22nd conference of the Asian Pacific Association for the Study of the Liver, Taipei, Taiwan, 16-19 February 2012. Hepatol Intl. 2012 Jan;6(1):1-21. Abstract

20. 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.Full text  Abstract

21. Brissot P, de Bels F. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006;36-41. Abstract

22. Griffiths WJ. Review article: the genetic basis of haemochromatosis. Aliment Pharmacol Ther. 2007 Aug 1;26(3):331-42.Full text  Abstract

23. Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002 Jan 19;359(9302):211-8. Abstract

24. 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.Full text  Abstract

25. Guyader D, Jacquelinet C, Moirand R, et al. Noninvasive prediction of fibrosis in C282Y homozygous hemochromatosis. Gastroenterology. 1998 Oct;115(4):929-36. Abstract

26. Beaton M, Guyader D, Deugnier Y, et al. Noninvasive prediction of cirrhosis in C282Y-linked hemochromatosis. Hepatology. 2002 Sep;36(3):673-8. Abstract

27. Allen KJ, Bertalli NA, Osborne NJ, et al; HealthIron Study Investigators. HFE Cys282Tyr homozygotes with serum ferritin concentrations below 1000 microg/L are at low risk of hemochromatosis. Hepatology. 2010 Sep;52(3):925-33.Full text  Abstract

28. Rossi E, Bulsara MK, Olynyk JK, et al. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem. 2001 Feb;47(2):202-8.Full text  Abstract

29. 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. Abstract

30. Falize L, Guillygomarc'h A, Perrin M, et al. Reversibility of hepatic fibrosis in treated genetic hemochromatosis: a study of 36 cases. Hepatology. 2006 Aug;44(2):472-7.Full text  Abstract

31. Dymock IW, Hamilton EB, Laws JW, et al. Arthropathy of haemochromatosis: clinical and radiological analysis of 63 patients with iron overload. Ann Rheum Dis. 1970 Sep;29(5):469-76.Full text  Abstract

32. Valenti L, Fracanzani AL, Rossi V, et al. The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol. 2008 Jan;35(1):153-8. Abstract

33. Harty LC, Lai D, Connor S, et al. Prevalence and progress of joint symptoms in hereditary hemochromatosis and symptomatic response to venesection. J Clin Rheumatol. 2011 Jun;17(4):220-2. Abstract

34. Potekhina ES, Lavrov AV, Samokhodskaya LM, et al. Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients. Blood Cells Mol Dis. 2005 Sep-Oct;35(2):182-8. Abstract

35. Adams PC, Reboussin DM, Press RD, et al. Biological variability of transferrin saturation and unsaturated iron-binding capacity. Am J Med. 2007 Nov;120(11):999.e1-7.Full text  Abstract

36. Cullis JO, Fitzsimons EJ, Griffiths WJ, et al. Investigation and management of a raised serum ferritin. Br J Haematol. 2018 May;181(3):331-340.Full text  Abstract

37. Gandon Y, Olivié D, Guyader D, et al. Non-invasive assessment of hepatic iron stores by MRI. Lancet. 2004 Jan 31;363(9406):357-62. Abstract

38. Adams PC, Speechley M, Barton JC, et al. Probability of C282Y homozygosity decreases as liver transaminase activities increase in participants with hyperferritinemia in the hemochromatosis and iron overload screening study. Hepatology. 2012 Jun;55(6):1722-6.Full text  Abstract

39. Beaton M, Adams PC. Assessment of silent liver fibrosis in hemochromatosis C282Y homozygotes with normal transaminase levels. Clin Gastroenterol Hepatol. 2008 Jun;6(6):713-4.Full text  Abstract

40. Cherfane CE, Hollenbeck RD, Go J, et al. Hereditary hemochromatosis: missed diagnosis or misdiagnosis? Am J Med. 2013 Nov;126(11):1010-5. Abstract

41. Eschewege E, Saddi R, Wacjman H, et al. Haemoglobin AIc in patients on venesection therapy for haemochromatosis [in French]. Diabetes Metab. 1982 Jun;8(2):137-40. Abstract

42. Yen AW, Fancher TL, Bowlus CL. Revisiting hereditary hemochromatosis: current concepts and progress. Am J Med. 2006 May;119(5):391-9. Abstract

43. McDermott JH, Walsh CH. Hypogonadism in hereditary hemochromatosis. J Clin Endocrinol Metabol. 2005 Apr;90(4):2451-5.Full text  Abstract

44. Valenti L, Varenna M, Fracanzani AL, et al. Association between iron overload and osteoporosis in patients with hereditary hemochromatosis. Osteoporos Int. 2009 Apr;20(4):549-55. Abstract

45. Mehrany K, Drage LA, Brandhagen DJ, et al. Association of porphyria cutanea tarda with hereditary hemochromatosis. J Am Acad Dermatol. 2004 Aug;51(2):205-11. Abstract

46. Kaito M. Molecular mechanism of iron metabolism and overload in chronic hepatitis C. J Gastroenterol. 2007 Jan;42(1):96-9. Abstract

47. Corradini E, Pietrangelo A. Iron and steatohepatitis. J Gastroenterol Hepatol. 2012 Mar;27 Suppl 2:42-6. Abstract

48. Moirand R, Mortaji AM, Loréal O, et al. A new syndrome of liver iron overload with normal transferrin saturation. Lancet. 1997 Jan 11;349(9045):95-7. Abstract

49. Haute Autorité de Santé (France). Management of patients with HFE-related haemochromatosis (type 1 haemochromatosis). Jul 2005 [internet publication].Full text

50. U.S. Preventive Services Task Force. Screening for hemochromatosis: recommendation statement. Ann Intern Med. 2006 Aug 1;145(3):204-8.Full text  Abstract

51. Olynyk JK, Hagan SE, Cullen DJ, et al. Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc. 2004 Mar;79(3):309-13. Abstract

52. Andersen RV, Tybjaerg-Hansen A, Appleyard M, et al. Hemochromatosis mutations in the general population: iron overload progression rate. Blood. 2004 Apr 15;103(8):2914-9.Full text  Abstract

53. Bacon BR, Adams PC, Kowdley KV, et al. 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.Full text  Abstract

54. Fitzsimons EJ, Cullis JO, Thomas DW, et al. Diagnosis and therapy of genetic haemochromatosis (review and 2017 update). Br J Haematol. 2018 May;181(3):293-303.Full text  Abstract

55. Bryant J, Cooper K, Picot J, et al. A systematic review of the clinical validity and clinical utility of DNA testing for hereditary haemochromatosis type 1 in at-risk populations. J Med Genet. 2008 Aug;45(8):513-8. Abstract

56. Bryant J, Cooper K, Picot J, et al. Diagnostic strategies using DNA testing for hereditary haemochromatosis in at-risk populations: a systematic review and economic evaluation. Health Technol Assess. 2009 Apr;13(23):iii, ix-xi, 1-126.Full text  Abstract

57. Gurrin LC, Osborne NJ, Constantine CC, et al. The natural history of serum iron indices for HFE C282Y homozygosity associated with hereditary hemochromatosis. Gastroenterology. 2008 Dec;135(6):1945-52.Full text  Abstract

58. McDonnell SM, Grindon AJ, Preston BL, et al. A survey of phlebotomy among persons with hemochromatosis. Transfusion. 1999 Jun;39(6):651-6. Abstract

59. Bacon BR, Adams PC, Kowdley KV, et al. 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.Full text  Abstract

60. Moretti D, van Doorn GM, Swinkels DW, et al. Relevance of dietary iron intake and bioavailability in the management of HFE hemochromatosis: a systematic review. Am J Clin Nutr. 2013 Aug;98(2):468-79.Full text  Abstract

61. Phatak P, Brissot P, Wurster M, et al. A phase 1/2, dose-escalation trial of deferasirox for the treatment of iron overload in HFE-related hereditary hemochromatosis. Hepatology. 2010 Nov;52(5):1671-9.Full text  Abstract

62. Hoffbrand AV, Cohen A, Hershko C. Role of deferiprone in chelation therapy for transfusional iron overload. Blood. 2003 Jul 1;102(1):17-24.Full text  Abstract

63. Buzzetti E, Kalafateli M, Thorburn D, et al., Interventions for hereditary haemochromatosis. Cochrane Database Syst Rev. 2017 Mar 8;(3):CD011647.Full text  Abstract

64. Sundic T, Hervig T, Hannisdal S, et al. Erythrocytapheresis compared with whole blood phlebotomy for the treatment of hereditary haemochromatosis. Blood Transfus. 2014 Jan;12 Suppl 1:s84-9.Full text  Abstract

65. Niederau C, Fischer R, Pürschel A, et al. Long-term survival in patients with hereditary hemochromatosis. Gastroenterology. 1996 Apr;110(4):1107-19. Abstract

66. Van Aken MO, De Craen AJ, Gussekloo J, 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 Oct;32(10):750-4. Abstract

67. Coppin H, Bensaid M, Fruchon S, et al. Longevity and carrying the C282Y mutation for haemochromatosis on the HFE gene: case control study of 492 French centenarians. BMJ. 2003 Jul 19;327(7407):132-3.Full text  Abstract

68. Kowdley KV, Brandhagen DJ, Gish RG, et al. Survival after liver transplantation in patients with hepatic iron overload: the national hemochromatosis transplant registry. Gastroenterology. 2005 Aug;129(2):494-503.Full text  Abstract

69. Kowdley KV. Iron, hemochromatosis, and hepatocellular carcinoma. Gastroenterology. 2004 Nov;127(5 Suppl 1):S79-86. Abstract

70. Guggenbuhl P, Deugnier Y, Boisdet JF, et al. Bone mineral density in men with genetic hemochromatosis and HFE gene mutation. Osteoporosis Int. 2005 Dec;16(12):1809-14. Abstract

71. Khan FA, Fisher MA, Khakoo RA. Association of hemochromatosis with infectious diseases: expanding spectrum. Int J Infect Dis. 2007 Nov;11(6):482-7.Full text  Abstract

72. Adams PC. Implications of genotyping of spouses to limit investigation of children in genetic hemochromatosis. Clin Genet. 1998 Mar;53(3):176-8. Abstract

73. 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. Abstract

Use of this content is subject to our disclaimer