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Hemochromatosis and iron-overload screening in a racially diverse population.
N Engl J Med. 2005 Apr 28; 352(17):1769-78.NEJM

Abstract

BACKGROUND

Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population.

METHODS

Participants were recruited from primary care practices and blood-drawing laboratories. Blood samples were tested for transferrin saturation, serum ferritin, and C282Y and H63D mutations of the HFE gene. Before genetic screening, participants were asked whether they had a history of medical conditions related to iron overload.

RESULTS

Of the 99,711 participants, 299 were homozygous for the C282Y mutation. The estimated prevalence of C282Y homozygotes was higher in non-Hispanic whites (0.44 percent) than in Native Americans (0.11 percent), Hispanics (0.027 percent), blacks (0.014 percent), Pacific Islanders (0.012 percent), or Asians (0.000039 percent). Among participants who were homozygous for the C282Y mutation but in whom iron overload had not been diagnosed (227 participants), serum ferritin levels were greater than 300 mug per liter in 78 of 89 men (88 percent) and greater than 200 microg per liter in 79 of 138 women (57 percent). Pacific Islanders and Asians had the highest geometric mean levels of serum ferritin and mean transferrin saturation despite having the lowest prevalence of C282Y homozygotes. There were 364 participants in whom iron overload had not been diagnosed (29 C282Y homozygotes) who had a serum ferritin level greater than 1000 microg per liter. Among men, C282Y homozygotes and compound heterozygotes were more likely to report a history of liver disease than were participants without HFE mutations.

CONCLUSIONS

The C282Y mutation is most common in whites, and most C282Y homozygotes have elevations in serum ferritin levels and transferrin saturation. The C282Y mutation does not account for high mean serum ferritin levels and transferrin saturation values in nonwhites.

Authors+Show Affiliations

Department of Medicine, London Health Sciences Centre, London, Ont, Canada. padams@uwo.caNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

15858186

Citation

Adams, Paul C., et al. "Hemochromatosis and Iron-overload Screening in a Racially Diverse Population." The New England Journal of Medicine, vol. 352, no. 17, 2005, pp. 1769-78.
Adams PC, Reboussin DM, Barton JC, et al. Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005;352(17):1769-78.
Adams, P. C., Reboussin, D. M., Barton, J. C., McLaren, C. E., Eckfeldt, J. H., McLaren, G. D., Dawkins, F. W., Acton, R. T., Harris, E. L., Gordeuk, V. R., Leiendecker-Foster, C., Speechley, M., Snively, B. M., Holup, J. L., Thomson, E., & Sholinsky, P. (2005). Hemochromatosis and iron-overload screening in a racially diverse population. The New England Journal of Medicine, 352(17), 1769-78.
Adams PC, et al. Hemochromatosis and Iron-overload Screening in a Racially Diverse Population. N Engl J Med. 2005 Apr 28;352(17):1769-78. PubMed PMID: 15858186.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Hemochromatosis and iron-overload screening in a racially diverse population. AU - Adams,Paul C, AU - Reboussin,David M, AU - Barton,James C, AU - McLaren,Christine E, AU - Eckfeldt,John H, AU - McLaren,Gordon D, AU - Dawkins,Fitzroy W, AU - Acton,Ronald T, AU - Harris,Emily L, AU - Gordeuk,Victor R, AU - Leiendecker-Foster,Catherine, AU - Speechley,Mark, AU - Snively,Beverly M, AU - Holup,Joan L, AU - Thomson,Elizabeth, AU - Sholinsky,Phyliss, AU - ,, PY - 2005/4/29/pubmed PY - 2005/5/4/medline PY - 2005/4/29/entrez SP - 1769 EP - 78 JF - The New England journal of medicine JO - N Engl J Med VL - 352 IS - 17 N2 - BACKGROUND: Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population. METHODS: Participants were recruited from primary care practices and blood-drawing laboratories. Blood samples were tested for transferrin saturation, serum ferritin, and C282Y and H63D mutations of the HFE gene. Before genetic screening, participants were asked whether they had a history of medical conditions related to iron overload. RESULTS: Of the 99,711 participants, 299 were homozygous for the C282Y mutation. The estimated prevalence of C282Y homozygotes was higher in non-Hispanic whites (0.44 percent) than in Native Americans (0.11 percent), Hispanics (0.027 percent), blacks (0.014 percent), Pacific Islanders (0.012 percent), or Asians (0.000039 percent). Among participants who were homozygous for the C282Y mutation but in whom iron overload had not been diagnosed (227 participants), serum ferritin levels were greater than 300 mug per liter in 78 of 89 men (88 percent) and greater than 200 microg per liter in 79 of 138 women (57 percent). Pacific Islanders and Asians had the highest geometric mean levels of serum ferritin and mean transferrin saturation despite having the lowest prevalence of C282Y homozygotes. There were 364 participants in whom iron overload had not been diagnosed (29 C282Y homozygotes) who had a serum ferritin level greater than 1000 microg per liter. Among men, C282Y homozygotes and compound heterozygotes were more likely to report a history of liver disease than were participants without HFE mutations. CONCLUSIONS: The C282Y mutation is most common in whites, and most C282Y homozygotes have elevations in serum ferritin levels and transferrin saturation. The C282Y mutation does not account for high mean serum ferritin levels and transferrin saturation values in nonwhites. SN - 1533-4406 UR - https://www.unboundmedicine.com/medline/citation/15858186/Hemochromatosis_and_iron_overload_screening_in_a_racially_diverse_population_ L2 - https://www.nejm.org/doi/10.1056/NEJMoa041534?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -