The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis
Abstract
Hereditary hemochromatosis (HH) is a common autosomal recessive genetic disorder of iron metabolism. The HFE candidate gene encoding an HLA class I-like protein involved in HH was identified in 1996. Two missense mutations have been described: C282Y, accounting for 80% to 90% of HH chromosomes, and H63D, which is associated with a milder form of the disease representing 40% to 70% of non-C282Y HH chromosomes. We report here on the analysis of C282Y, H63D, and the 193A→T substitution leading to the S65C missense substitution in a large series of probands and controls. The results confirm that the C282Y substitution was the main mutation involved in hemochromatosis, accounting for 85% of carrier chromosomes, whereas the H63D substitution represented 39% of the HH chromosomes that did not carry the C282Y mutation. In addition, our screening showed that the S65C substitution was significantly enriched in probands with at least one chromosome without an assigned mutation. This substitution accounted for 7.8% of HH chromosomes that were neither C282Y nor H63D. This enrichment of S65C among HH chromosomes suggests that the S65C substitution is associated with the mild form of hemochromatosis.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
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
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
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
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
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
Feder, J. N., Tsuchihashi, Z., Irrinki, A., Lee, V. K., Mapa, F. A., Morikang, E., Prass, C. E., Starnes, S. M., Wolff, R. K., Parkkila, S., et al. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.22.14025 · Cited by 471
Jazwinska, E. C., Cullen, L. M., Busfield, F., Pyper, W. R., Webb, S. I., Powell, L. W., Morris, C. P., & Walsh, T. P. (1996) · Nature Genetics · doi:10.1038/ng1196-249 · Cited by 419
Mutation Analysis in Hereditary Hemochromatosis
Beutler, E., Gelbart, T., West, C., Lee, P., Adams, M., Blackstone, R., Pockros, P., Kosty, M., Venditti, C. P., Phatak, P. D., et al. (1996) · Blood Cells, Molecules, and Diseases · doi:10.1006/bcmd.1996.0027 · Cited by 416
Waheed, A., Parkkila, S., Zhou, X. Y., Tomatsu, S., Tsuchihashi, Z., Feder, J. N., Schatzman, R. C., Britton, R. S., Bacon, B. R., & Sly, W. S. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.23.12384 · Cited by 380
Jouanolle, A. M., Gandon, G., Jézéquel, P., Blayau, M., Campion, M. L., Yaouanq, J., Mosser, J., Fergelot, P., Chauvel, B., Bouric, P., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-251 · Cited by 341
Cited by
Andrews, N. C. (1999) · New England Journal of Medicine · doi:10.1056/nejm199912233412607 · Cited by 2,130
Hereditary Hemochromatosis — A New Look at an Old Disease
Pietrangelo, A. (2004) · New England Journal of Medicine · doi:10.1056/nejmra031573 · Cited by 992
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 and Hereditary Hemochromatosis: A HuGE Review
Hanson, E. H. (2001) · American Journal of Epidemiology · doi:10.1093/aje/154.3.193 · Cited by 432
Association of age, sex, and race with body iron stores in adults: Analysis of NHANES III data
Zacharski, L. R., Ornstein, D. L., Woloshin, S., & Schwartz, L. M. (2000) · American Heart Journal · doi:10.1067/mhj.2000.106646 · Cited by 349
Metadata
- Authors
- Mura, C., Raguenes, O., & Férec, C.
- Venue
- Blood
- Publisher
- American Society of Hematology
- Published
- 1999-04-15
- Volume
- 93
- Issue
- 8
- Pages
- 2502-2505
- ISSN
- 0006-4971 (ISSN-L)
- 1528-0020
- OpenAlex
- W2149406240
- Cited by
- 408
- References
- 21
- FWCI
- 23.94
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis. https://app.cochat.ai/papers/10.1182/blood.v93.8.2502
- The paper
- Mura, C., Raguenes, O., & Férec, C. (1999). HFE Mutations Analysis in 711 Hemochromatosis Probands: Evidence for S65C Implication in Mild Form of Hemochromatosis. Blood. https://doi.org/10.1182/blood.v93.8.2502
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
