Skip to main content
Log in

Do some carriers of hemochromatosis gene mutations have higher than normal rates of disease and death?

  • Published:
Biometals Aims and scope Submit manuscript

Abstract

Some heterozygote carriers of hemochromatosis HFE gene mutations become iron loaded with ensuing increased risk of disease and premature death. Contributing nutritional, behavioral and genetic factors are beginning to be identified. Carriers of HFE gene mutations should be advised to minimize contributing factors, if possible, and to have their iron values tested periodically. If values begin to rise, a schedule of phlebotomies should be considered.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

References

  • Bathum L, Christiansen L, Nybo H, Ranberg KA, Gaist D, Jeune B. Petersen NE, Vaupel J, Christensen K. 2001. Association of mutations in the hemochromatosis gene with shorter life expectancy. Arch Intern Med 161, 2441-2444.

    Google Scholar 

  • Beckman LE, Van Landeghem GF, Sikstrom C, Wahlin A, Markevarn B, Hallmans G, Lenner P, Athlin L, Stenling R, Beckman L. 1999. Interaction between haemochromatosis and transferrin receptor genes in different neoplastic disorders. Carcinogenesis 20, 1231-1233.

    Google Scholar 

  • Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T, 2002. Penetrance of 845G-A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet 359, 211-218.

    Google Scholar 

  • di Montemuros FM, Tavazzi D, Salsano E, Piepoli T, Pollo B, Fiorelli G, Finocchiaro G. 2001. High frequency of the H63D mutation of the hemochromatosis gene (HFE) in malignant gliomas. Neurology 57, 1342.

    Google Scholar 

  • Duane P, Raja KB, Simpson RJ, Peters TJ. 1992. Intestinal iron absorption in chronic alcoholics. Alcoh Alcoholism 27, 539-544.

    Google Scholar 

  • Feder JN, Penny DM, Irrinki A, Lee VK, Lebron JA, Watson N, Tsuchihashi Z, Sigel E, Bjorkman PJ, Schatzman RC. 1998. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Nat Acad Sci USA 95, 1472-1477.

    Google Scholar 

  • George DK, Spooner R, McDonagh T, Dargie H, Mills PR. 2001. The prevalence of haemochromatosis in west Scotland and the relationship of the HFE gene mutations to ischaemic heart disease. BioIron 2001 World Congress on Iron Metabolism Abstract 0 75.

  • Gerhard GS, Levin KA, Goldstein JP, Wojnar MM, Chorney MJ, Belchis DA. 2001. Vibrio vulnificus septicemia in a patient with the hemochromatosis HFE C282Y mutation. Arch Pathol Lab Med 125, 1107-1109.

    Google Scholar 

  • Jeffrey GP, Lim EM, Rossi E. 2001. Iron overload in HFE compound heterozygotes. BioIron 2001 World Congress on Iron Metabolism Abstract P 64.

  • Nelson RL, Persky V, Davis F, Becker E. 2001. Risk of disease in siblings of patients with hereditary hemochromatosis. Digestion 64, 120-124.

    Google Scholar 

  • Pereira AC, Cuoco MAR, Mota GF, da Silva FF, Freitas HFG, Bocchi EA, Soler JMP, Mansur AJ, Krieger JE. 2001. Hemochromatosis gene variants in patients with cardiomyopathy. Am J Cardiol 88, 388-391.

    Google Scholar 

  • Roest M, van der Schouw YT, de Valk B, Marx JJM, Tempelman MJ, de Groot PG, Sixma JJ, Banga JD. 1999. Heterozygosity for a hereditary hemochromatosis gene is associated with cardiovascular death in women. Circulation 100, 1268-1273.

    Google Scholar 

  • Rossi E, Bulsara MK, Olynyk JK, Cullen DJ, Summerville L, Powell LW. 2001. Effect of hemochromatosis genotype and lifestyle factors on iron and red cell indices in a community population. Clin Chem 47, 202-208.

    Google Scholar 

  • Roy CN, Carlson EJ, Anderson EL, Basava A, Starnes SM, Feder JN, Enns CA. 2000. Interactions of the ectodomain of HFE with the transferrin receptor are critical for iron homeostasis in cells. FEBS Lett 484, 271-274.

    Google Scholar 

  • Toumainen T-P, Kontula K, Nyssonen K, Lakka TA, Helio T, Salonen JT. 1999. Increased risk of acute myocardial infarction in carriers of the hemochromatosis gene Cys282Tyr mutation. Circulation 100, 1274-1279.

    Google Scholar 

  • Weinberg ED. 1996. The role of iron in cancer. Eur J Canc Prev 5, 19-36.

    Google Scholar 

  • Weinberg ED. 1999a. Iron loading and disease surveillance. Emerg Infec Dis 5, 346-352.

    Google Scholar 

  • Weinberg ED. 1999b. The development of awareness of the carcinogenic hazard of inhaled iron. Oncol Res 11, 109-113.

  • Weinberg ED. 2000. Microbial pathogens with impaired ability to acquire host iron. BioMetals 13, 85-89.

    Google Scholar 

  • Witte DL, Crosby WH, Edwards CQ, Fairbanks VF, Mitros FA. 1996. Hereditary hemochromatosis. Clin Chim Acta 245, 139-200.

    Google Scholar 

  • Yang Z-p, Kuo C-c, Grayston JT. 1995. Systemic dissemination of Chlamydia pneumoniae following intranasal inoculation in mice. J Infec Dis 171, 736-738

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Weinberg, E. Do some carriers of hemochromatosis gene mutations have higher than normal rates of disease and death?. Biometals 15, 347–350 (2002). https://doi.org/10.1023/A:1020206316407

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1023/A:1020206316407

Navigation