Research Publications

Hemochromatosis-Related Scientific Literature and References


Adams PC. Presented at Royal College of Physicians of Ireland conference. “Prediction of haemochromatosis”

Physician Resources

Provincial Guidelines

British Columbia


International Guidelines

Adams, P., Altes, A., Brissot, P. et al. “Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype.” Hepatol Int (2018) 12: 83.

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(1):328-343.

Domenico Girelli, Fabiana Busti, Pierre Brissot, Ioav Cabantchik, Martina U. Muckenthaler, Graça Porto; on behalf of the Nomenclature Committee of the International Society for the Study of Iron in Biology and Medicine (BIOIRON Society), Hemochromatosis classification: update and recommendations by the BIOIRON Society. Blood 2022; 139 (20): 3018–3029. doi:

European Association for the Study of the Liver. EASL Clinical Practice Guidelines for HFE Hemochromatosis. J Hepatol (2010). doi: 10.1016/j.jhep.2010.03.001.


Quick reads

Beaton MD, Adams PC. “The myths and realities of haemochromatosis.” Can J Gastroenterol 2007;21:101-104.

Kiely PDW. “Haemochromatosis arthropathy – a conundrum of the Celtic Curse.” Journal of the Royal College of Physicians of Edinburgh. Volume 48 Issue 3 September 2018.

Lanktree Matthew B, Sadikovic Bekim, Crowther Mark A. “A 42-year-old man with elevated ferritin.” CMAJ Aug 2015, 187 (11) 820-821; DOI: 10.1503/cmaj.140259.

Other Resources


Coleman, V. Hemochromatosis, OA, or RA: The role of iron overload in joint arthropathy. Canadian Chiropractor. April 2013.


Van Doorn, G.M. Wageningen University, Division of Human Nutrition. Dietary Advice in HFE-Hemochromatosis. May 2012. ISBN 978-90-8585-741-9

GEC-KO (Genetics Education Canada– Knowledge Organization):

Point of Care Tool:

Tools are intended to facilitate integration of genomic medicine into practice, to help identify and appropriately refer patients who may benefit from genetic services and reassure those at population risk. The Hemochromatosis tool contains:

  • Red Flags to identify patients at risk of Hereditary Hemochromatosis most likely to benefit from genetic testing and/or referral to Genetics
  • Screening and surveillance recommendations for individuals who have a positive genetic test result for Hereditary Hemochromatosis

GECKO on the run (in Educational Resources): Each GEC-KO on the run is a concise summary for healthcare providers on a genetic disorder, technology or topic.   For access to a more comprehensive summary, view the GEC-KO Messenger.

GECKO Messenger (in Educational Resources):

Both GEC-KO Messenger and GEC-KO on the run are written by a genetic counsellor with input from a geneticist and family physician.  They are evidence-based and referenced, and feature a ‘Bottom line’ with recommendations.

Hereditary Hemochromatosis Education Module (In adult genetics): Following this session the learner will be able to:

  • Refer to their local Genetics centre and/or order genetic testing for hereditary hemochromatosis
  • Discuss and address patient concerns regarding family history of hereditary hemochromatosis
  • Find high quality genomics educational resources appropriate for primary care


Emanuele, D., Edwards Q., Tuasson, I. “HFE-associated hereditary hemochromatosis: Overview of genetics and clinical implications for nurse practitioners in primary care settings.” Journal of the American Association of Nurse Practitioners. Feb, 2014.

O’Connell, E., Sheahan, O. “Hereditary haemochromatosis: patient support and education.” Nursing Standard. 24, 3, 49-56.

Benhaberou-Brun, Dalila. Perspective infirmière Printemps 2021. La phlébotomie thérapeutique


Volume-Smith, Carlyn. Presented at Pharmacists Manitoba Spring Virtual Conference 2021. Hereditary Hemochromatosis: Dispelling the Myths. (PDF)


Allen, M. “Hereditary Hemochromatosis: A Literature Review and Case Report.” Physiotherapy Canada. 2010 Summer; 62(3): 276–284.


Journal of Musculoskeletal Medicine Vol 26 No 1. “Identifying and managing hemochromatosis arthropathy.”

Kiely, Patrick D W, and Mark E Lloyd. “Ankle arthritis – an important signpost in rheumatologic practice.” Rheumatology (Oxford, England) vol. 60,1 (2021): 23-33. doi:10.1093/rheumatology/keaa531

Haemochromatosis Arthropathy Research Initiave. “Treatment of Haemochromatosis Arthropathy.” (PDF)

Landmark Papers

Trousseau, Armand. (1865) La Glycosurie, Diabète sucré. Clinique médicale de l’Hôtel-Dieu de Paris, Volume 2 : 663 to 698.
(First known described case of bronze diabetes. Page 672)

Sheldon, J.H. (1935). Hemochromatosis. New York, NY: Oxford University Press.
(Hemochromatosis hypothesized to be iron related and hereditary)

Finch, C. (1949). Iron metabolism in hemochromatosis. Journal of Clinical Investigation. 28, 780.
(First reported successful phlebotomy therapy)

Finch, C., Finch, S. (1955). Idiopathic Hemochromatosis: An Iron storage disease. Medicine, 34: pp 381-430.
(First comprehensive review of Hemochromatosis)

R. Williams, P.M. Smith, E.J. Spicer et al.(1965) Venesection therapy in idiopathic hemochromatosis: An analysis of 40 treated and 18 untreated patients. Q J Med, 38: pp. 1–16
(Phlebotomy shown to be effective therapy in hemochromatosis management)

Simon, M., Bourel, M., et al. (1977). Idiopathic Hemochromatosis: Demonstration of recessive transmission and early detection by family HLA typing. New England Journal of Medicine, 297: 1017-1021.
(Hemochromatosis shown to be autosomal recessive genetic disease)

J.N. Feder, A. Gnirke, W. Thomas et al. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet, 13: 399–408
(Identification of the HFE gene)

General Reference

Adams PC., et al. Hemochromatosis and Iron Overload Screening (HEIRS) Study Research Investigators: Hemochromatosis and iron-overload screening in a racially diverse population. New England Journal of Medicine, 352 (2005): 1769–1778.

Adams P., Barton, JC. How I treat hemochromatosis. Blood, 116 (2010): 317–325.

Alexander, J., Kowdley, KV. HFE-associated hereditary hemochromatosis. Genet Med, 11 (2009): 307–313.

Allen, KJ., et al. Iron-overload–related disease in HFE hereditary hemochromatosis. New England Journal of Medicine, 358.3 (2008): 221-230.

Atkins JL, Pilling LC, Masoli JAH, et al. “Association of Hemochromatosis HFE p.C282Y Homozygosity With Hepatic Malignancy.” JAMA. 2020;324(20):2048–2057. doi:10.1001/jama.2020.21566

Babbitt, JL., Lin, HY. The Molecular Pathogenesis of Hereditary Hemochromatosis. Seminars in Liver Disease (2011); 31: 280-292.

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(1):328-343.

Bacon, BR., Britton, RS., Olynyk JK., Ramm, GA., Trinder GA. Hereditary hemochromatosis in the post-HFE era. Hepatology, 48 (2008), pp. 991–1001.

Brissot P, Troadec MB, Bardou-Jacquet E, Le Lan C, Jouanolle AM, Deugnier Y, et al. Current approach to hemochromatosis. Blood Reviews. 2008;22(4):195-210

Cruz E, Whittington C, Krikler SH, Mascarenhas C, Lacerda R, Vieira J, Porto G: A new 500kb haplotype associated with high CD8+ lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis. BMC Medical Genetics 2008; 9:97

European Association For The Study Of The Liver. EASL clinical practice guidelines for HFE hemochromatosis. Hepatology. 2010;53(1):3-22.

Leitman, Susan F. Hemochromatosis: the new blood donor. ASH Education Program Book 2013.1 (2013): 645-650.

Lim A, Speechly M and Adams PC. Predicting C282Y homozygote genotype for hemochromatosis using serum ferritin and transferrin saturation values from 44809 participants of the HEIRS study. Can J Gastroenterol Hepatol. October 2014;28 (9): 502-504. (includes mobile APP for download)

Nemeth E, Roetto A, Garozzo G, Ganz T, Camaschella C. Hepcidin is decreased in TFR2 hemochromatosis. Blood. 2005;105(4):1803-6.

Pietrangelo, Antonello. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology 139.2 (2010): 393-408.

Pietrangelo A. Hepcidin in human iron disorders: therapeutic implications. J Hepatol. 2011;54(1):173-81.

Pilling L CTamosauskaite JJones GWood A RJones LKuo C et al. “Common conditions associated with hereditary haemochromatosis genetic variants: cohort study in UK Biobank.” doi:10.1136/bmj.k5222

Power, Tara E., et al. Psychosocial impact of genetic testing for hemochromatosis in the HEIRS Study: a comparison of participants recruited in Canada and in the United States. Genetic testing 11.1 (2007): 55-64.

Sandnes, Miriam et al. “Hyperferritinemia-A Clinical Overview.” Journal of clinical medicine vol. 10,9 2008. 7 May. 2021, doi:10.3390/jcm10092008