157
Views
0
CrossRef citations to date
0
Altmetric
Original Articles

Hereditary hemochromatosis: data from a single center Copenhagen cohort

, &
Pages 972-977 | Received 09 Oct 2021, Accepted 10 Feb 2022, Published online: 07 Mar 2022

References

  • Milman N, Pedersen P. Evidence that the Cys282Tyr mutation of the HFE gene originated from a population in Southern Scandinavia and spread with the Vikings. Clin Genet. 2003;64(1):36–47.
  • Powell LW, Seckington RC, Deugnier Y. Haemochromatosis. Lancet. 2016;388(10045):706–716.
  • 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;13(4):399–408.
  • Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, et al. Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008;358(3):221–230.
  • Lim DR, Vidyasankar G, Phua C, et al. Clinical penetrance of hereditary hemochromatosis-related end-organ damage of C282Y homozygosity, a newfoundland experience. Clin Transl Gastroenterol. 2020;11(11):e00258.
  • Aguilar-Martinez P, Bismuth M, Blanc F, et al. The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance. Haematologica. 2010;95(4):551–556.
  • Pedersen P, Melsen GV, Milman N. Frequencies of the haemochromatosis gene (HFE) variants C282Y, H63D and S65C in 6,020 ethnic Danish men. Ann Hematol. 2008;87(9):735–740.
  • Bassett ML, Halliday JW, Ferris RA, et al. Diagnosis of hemochromatosis in young subjects: predictive accuracy of biochemical screening tests. Gastroenterology. 1984;87(3):628–633.
  • Brissot P, De BF. Current approaches to the management of hemochromatosis. Hematology Am Soc Hematol Educ Program. 2006;2006(1):36–41.
  • Beutler E, Felitti VJ, Koziol JA, et al. Penetrance of 845G–> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002;359(9302):211–218.
  • Milman NT, Schioedt FV, Junker AE, et al. Diagnosis and treatment of genetic HFE-hemochromatosis: the Danish aspect. Gastroenterology Res. 2019;12(5):221–232.
  • Valenti L, Fracanzani AL, Rossi V, et al. The hand arthropathy of hereditary hemochromatosis is strongly associated with iron overload. J Rheumatol. 2008;35(1):153–158.
  • Elmberg M, Hultcrantz R, Simard JF, et al. Risk of ischaemic heart disease and cardiomyopathy in patients with haemochromatosis and in their first-degree relatives: a nationwide, population-based study. J Intern Med. 2012;272(1):45–54.
  • Skinner C, Kenmure AC. Haemochromatosis presenting as congestive cardiomyopathy and responding to venesection. Br Heart J. 1973;35(4):466–468.
  • Wood MJ, Powell LW, Dixon JL, et al. Clinical cofactors and hepatic fibrosis in hereditary hemochromatosis: the role of diabetes mellitus. Hepatology. 2012;56(3):904–911.
  • Ellervik C, Mandrup-Poulsen T, Nordestgaard BG, et al. Prevalence of hereditary haemochromatosis in late-onset type 1 diabetes mellitus: a retrospective study. Lancet. 2001;358(9291):1405–1409.
  • Milman NT, Schiodt FV, Junker AE, et al. Genetic HFE-haemochromatosis. Ugeskr Laeger. 2018;180(51):V09180619.
  • Adhoute X, Foucher J, Laharie D, et al. Diagnosis of liver fibrosis using FibroScan and other noninvasive methods in patients with hemochromatosis: a prospective study. Gastroenterol Clin Biol. 2008;32(2):180–187.
  • Friedrich-Rust M, Ong MF, Martens S, et al. Performance of transient elastography for the staging of liver fibrosis: a meta-analysis. Gastroenterology. 2008;134(4):960–974.
  • Lurie Y, Webb M, Cytter-Kuint R, et al. Non-invasive diagnosis of liver fibrosis and cirrhosis. World J Gastroenterol. 2015;21(41):11567–11583.
  • Ommen SR, Mital S, Burke MA, et al. AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on clinical practice guidelines. J Thorac Cardiovasc Surg. 2021;162(1):e23–e106.
  • Saberzadeh-Ardestani B, Karamzadeh R, Basiri M, et al. Type 1 diabetes mellitus: cellular and molecular pathophysiology at a glance. Cell J. 2018;20(3):294–301.
  • Koefoed P, Dalhoff K, Dissing J, et al. HFE mutations and hemochromatosis in Danish patients admitted for HFE genotyping. Scand J Clin Lab Invest. 2002;62(7):527–535.
  • Pietrangelo A. Hereditary hemochromatosis: pathogenesis, diagnosis, and treatment. Gastroenterology. 2010;139(2):393–408.
  • Elmberg M, Hultcrantz R, Simard JF, et al. Increased risk of arthropathies and joint replacement surgery in patients with genetic hemochromatosis: a study of 3,531 patients and their 11,794 first-degree relatives. Arthritis Care Res. 2013;65(5):678–685.
  • Bell H, Berg JP, Undlien DE, et al. The clinical expression of hemochromatosis in Oslo, Norway. Excessive oral iron intake may lead to secondary hemochromatosis even in HFE C282Y mutation negative subjects. Scand J Gastroenterol. 2000;35(12):1301–1307.
  • Adams PC, Deugnier Y, Moirand R, et al. The relationship between iron overload, clinical symptoms, and age in 410 patients with genetic hemochromatosis. Hepatology. 1997;25(1):162–166.
  • Gallego CJ, Burt A, Sundaresan AS, Ye Z, et al. Penetrance of hemochromatosis in HFE genotypes resulting in p.Cys282Tyr and p.[Cys282Tyr];[His63Asp] in the eMERGE network. Am J Hum Genet. 2015;97(4):512–520.
  • Milman N. Hereditary haemochromatosis in Denmark 1950-1985. Clinical, biochemical and histological features in 179 patients and 13 preclinical cases. Dan Med Bull. 1991;38(4):385–393.
  • Milman N, Pedersen P, Steig T, et al. 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;80(12):737–744.
  • Niederau C, Fischer R, Sonnenberg A, et al. Survival and causes of death in cirrhotic and in noncirrhotic patients with primary hemochromatosis. N Engl J Med. 1985;313(20):1256–1262.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.