The DOI matches its Crossref record; 81 of the 81 references it cites were found in a registry or an index.
HFE Gene and Hereditary Hemochromatosis: A HuGE Review
Abstract
Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands. In this review, 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homozygous for the H63D mutation; 3.6% were C282Y heterozygotes, and 5.2% were H63D heterozygotes. In 7% of cases, C282Y and H63D mutations were not present. In the general population, the frequency of the C282Y/C282Y genotype is 0.4%. C282Y heterozygosity ranges from 9.2% in Europeans to nil in Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations. The H63D carrier frequency is 22% in European populations. Accurate data on the penetrance of the different HFE genotypes are not available. Extrapolating from limited clinical observations in screening studies, an estimated 40--70% of persons with the C282Y homozygous genotype will develop clinical evidence of iron overload. A smaller proportion will die from complications of iron overload. To date, population screening for HHC is not recommended because of uncertainties about optimal screening strategies, optimal care for susceptible persons, laboratory standardization, and the potential for stigmatization or discrimination.
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Cites
A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
Feder, J. N., Gnirke, A., Thomas, W., Tsuchihashi, Z., Ruddy, D. A., Basava, A., Dormishian, F., Domingo, R., Ellis, M. C., Fullan, A., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-399 · Cited by 3,664
Survival and Causes of Death in Cirrhotic and in Noncirrhotic Patients with Primary Hemochromatosis
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Long-term survival in patients with hereditary hemochromatosis
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Feder, J. N., Penny, D. M., Irrinki, A., Lee, V. K., Lebrón, J. A., Watson, N., Tsuchihashi, Z., Sigal, E., Bjorkman, P. J., & Schatzman, R. C. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.4.1472 · Cited by 827
Robinson, R. (1993) · BMJ · doi:10.1136/bmj.307.6907.793 · Cited by 816
The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
Camaschella, C., Roetto, A., Calì, A., De Gobbi, M., Garozzo, G., Carella, M., Majorano, N., Totaro, A., & Gasparini, P. (2000) · Nature Genetics · doi:10.1038/75534 · Cited by 803
Global prevalence of putative haemochromatosis mutations.
Merryweather-Clarke, A. T., Pointon, J. J., Shearman, J. D., & Robson, K. J. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.4.275 · Cited by 789
Lebrón, J. A., Bennett, M. J., Vaughn, D. E., Chirino, A. J., Snow, P. M., Mintier, G. A., Feder, J. N., & Bjorkman, P. J. (1998) · Cell · doi:10.1016/s0092-8674(00)81151-4 · Cited by 638
IDIOPATHIC HEMOCHROMATOSIS, AN IRON STORAGE DISEASE: A. Iron Metabolism in Hemochromatosis
FINCH, S. C., & FINCH, C. A. (1955) · Medicine · doi:10.1097/00005792-195512000-00001 · Cited by 579
HFE gene knockout produces mouse model of hereditary hemochromatosis
Zhou, X. Y., Tomatsu, S., Fleming, R. E., Parkkila, S., Waheed, A., Jiang, J., Fei, Y., Brunt, E. M., Ruddy, D. A., Prass, C. E., et al. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.5.2492 · Cited by 521
Cited by
Brissot, P., Pietrangelo, A., Adams, P. C., de Graaff, B., McLaren, C. E., & Loréal, O. (2018) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2018.16 · Cited by 430
Clinical and molecular aspects of lead toxicity: An update
Mitra, P., Sharma, S., Purohit, P., & Sharma, P. (2017) · Critical Reviews in Clinical Laboratory Sciences · doi:10.1080/10408363.2017.1408562 · Cited by 389
Cancer risk in patients with hereditary hemochromatosis and in their first-degree relatives
Elmberg, M., Hultcrantz, R., Ekbom, A., Brandt, L., Olsson, S., Olsson, R., Lindgren, S., Lööf, L., Stål, P., Wallerstedt, S., et al. (2003) · Gastroenterology · doi:10.1053/j.gastro.2003.09.035 · Cited by 273
Hepcidin and Host Defense against Infectious Diseases
Michels, K., Nemeth, E., Ganz, T., & Mehrad, B. (2015) · PLOS Pathogens · doi:10.1371/journal.ppat.1004998 · Cited by 205
“Hfemutations have arisen independently in several populations [33,34], and the most common mutation, C282Y, has a heterozygous prevalence of up to 10% in northern European populations [35].”
BackgroundGenetic haemochromatosis: genes and mutations associated with iron loading
Camaschella, C. (2002) · Best Practice & Research Clinical Haematology · doi:10.1016/s1521-6926(02)90207-0 · Cited by 52
Metadata
- Authors
- Hanson, E. H.
- Venue
- American Journal of Epidemiology
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-08-01
- Volume
- 154
- Issue
- 3
- Pages
- 193-206
- ISSN
- 0002-9262 (ISSN-L)
- OpenAlex
- W2163364365
- Cited by
- 432
- References
- 81
- FWCI
- 12.35
- Type
- journal article
- Language
- en
- Open access
- closed
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