The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Mutation Analysis in Hereditary Hemochromatosis
Open accessAbstract
The DNA of 147 patients of European origin clinically diagnosed with idiopathic hemochromatosis and 193 controls was examined for mutations of the HLA-H gene at nt 845 and nt 187. One hundred twenty-one (82.3%) of the hemochromatosis patients were homozygous and 10 (6.8%) heterozygous for the 845A (C282Y) mutation. All of the homozygous patients were also homozygous for nt 187C, and all 845A heterozygotes had at least one copy of 187C. Thus, the nt 845 and nt 187 mutations were in complete linkage disequilibrium; nt 187 was a C on all chromosomes with the 845A mutation. Eight of the 10 heterozygotes for 845A were heterozygous for 187G(H63D). The excess of heterozygotes at both nt 187 and nt 845 suggested either the presence of as yet undiscovered mutations existing in trans with 845A and in linkage disequilibrium with 187G, or that the 187G itself is a deleterious mutation, which in concert with the 845A can give rise to hemochromatosis. None of the 193 normal controls were homozygous for 845A and 29/193 (15%) were heterozygous for 845A. Although 47/193 (24.3%) of normal controls were heterozygous for the 187G mutation only two of these carried the 845A mutation. If the 187G mutation complemented the 845A mutation with high penetrance in causing hemochromatosis, then the population frequency of the two genes would require that a high proportion of patients with hemochromatosis be heterozygous for 845A and 187G. Instead, the frequency of homozygotes for the 845A mutation was much higher than that of the 845A/187G genotype. Based on our data, the penetrance of the 845A/187G genotype is only 1.5% and based on the data of Feder et al. only 0.5%. In contrast, the penetrance of the homozygous 845A/845A genotype seems to be very high. Thus, screening for this genotype should be very useful.
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Citations
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
Prevalence of Hemochromatosis among 11,065 Presumably Healthy Blood Donors
Edwards, C. Q., Griffen, L. M., Goldgar, D., Drummond, C., Skolnick, M. H., & Kushner, J. P. (1988) · New England Journal of Medicine · doi:10.1056/nejm198805263182103 · Cited by 628
Association of HLA-A3 and HLA-B14 antigens with idiopathic haemochromatosis.
Simon, M., Bourel, M., Fauchet, R., & Genetet, B. (1976) · Gut · doi:10.1136/gut.17.5.332 · Cited by 389
Rothenberg, B. E., & Voland, J. R. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.4.1529 · Cited by 187
Jazwinska, E. C., Pyper, W. R., Burt, M. J., Francis, J. L., Goldwurm, S., Webb, S. I., Lee, S. C., Halliday, J. W., & Powell, L. W. (1995) · Europe PMC (PubMed Central) · Cited by 67
Screening for haemochromatosis: prevalence among Danish blood donors
Wiggers, P., Dalhøj, J., Kiær, H., Ring‐Larsen, H., Petersen, P. H., Blaabjerg, O., & Hørder, M. (1991) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.1991.tb00441.x · Cited by 52
PREVALENCE OF HEMOCHROMATOSIS IN A RANDOM SAMPLE OF ASYMPTOMATIC MEN*
Elliott, R., Lin, B. P. C., Dent, O. F., et al. (1986) · Australian and New Zealand Journal of Medicine · doi:10.1111/j.1445-5994.1986.tb02018.x · Cited by 38
Gandon, G., Jouanolle, A. M., Chauvel, B., Mauvieux, V., Treut, A. L., Feingold, J., Gall, J. Y. L., David, V., & Yaouanq, J. (1996) · Human Genetics · doi:10.1007/bf00218843 · Cited by 29
Iron status in young Danish men and women: a population survey comprising 548 individuals
Milman, N. T., Clausen, J. O., & Jordal, R. (1995) · Annals of Hematology · doi:10.1007/bf01700378 · Cited by 22
Seese, N. K., Venditti, C. P., Chorney, K. A., Gerhard, G. S., Ma, J., Hudson, T. J., Phatak, P. D., & Chorney, M. J. (1996) · Blood Cells Molecules and Diseases · doi:10.1006/bcmd.1996.0006 · Cited by 17
Self-citation
Cited by
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
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
Beutler, E., Felitti, V. J., Koziol, J. A., Ho, N. J., & Gelbart, T. (2002) · The Lancet · doi:10.1016/s0140-6736(02)07447-0 · Cited by 823
Self-citationThe 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
EASL clinical practice guidelines for HFE hemochromatosis
European Association for the Study of the Liver (2010) · Journal of Hepatology · doi:10.1016/j.jhep.2010.03.001 · Cited by 587
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
Metadata
- Authors
- Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R., Pockros, P., Kosty, M., Venditti, C. P., Phatak, P. D., Seese, N. K., Chorney, K. A., Ten Elshof, A. E., Gerhard, G. S., & Chorney, M.
- Venue
- Blood Cells, Molecules, and Diseases
- Publisher
- Elsevier BV
- Published
- 1996-08
- Volume
- 22
- Issue
- 2
- Pages
- 187-194
- ISSN
- 1079-9796 (ISSN-L)
- OpenAlex
- W2063005653
- Cited by
- 416
- References
- 11
- FWCI
- 31.78
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R., Pockros, P., Kosty, M., Venditti, C. P., Phatak, P. D., Seese, N. K., Chorney, K. A., Ten Elshof, A. E., Gerhard, G. S., & Chorney, M. (1996). Mutation Analysis in Hereditary Hemochromatosis. Blood Cells, Molecules, and Diseases. https://doi.org/10.1006/bcmd.1996.0027
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