title: Prevalence of C282Y and H63D mutations in the hemochromatosis (HFE) gene in the United States.
abstract: BACKGROUND
  Population-based estimates of the prevalence of disease-associated mutations, such as hemochromatosis (HFE) gene mutations, are needed to determine the usefulness of genetic screening.
  
  
  OBJECTIVE
  To estimate the prevalence of the HFE mutations C282Y and H63D in the US population.
  
  
  METHODS
  Cross-sectional population-based study of samples in the DNA bank from phase 2 of the Third National Health and Nutrition Examination Survey conducted from 1992 to 1994.
  
  
  METHODS
  Genotyped samples of cells from a total of 5171 participants, cross-classified by sex, age, and race/ethnicity in the analysis.
  
  
  METHODS
  Estimates of the prevalence of C282Y and H63D mutations.
  
  
  RESULTS
  The prevalence of C282Y homozygosity is estimated to be 0.26% (95% confidence interval [CI], 0.12%-0.49%); 1.89% (95% CI, 1.48%-2.43%) for H63D homozygosity; and 1.97% (95% CI, 1.54%-2.49%) for compound heterozygosity. The prevalence estimates for C282Y heterozygosity (C282Y/wild type) are 9.54% among non-Hispanic whites, 2.33% among non-Hispanic blacks, and 2.75% among Mexican-Americans. The prevalence estimates of the C282Y mutation in the US population are 5.4% (95% CI, 4.7%-6.2%) and 13.5% (95% CI, 12.5%-14.8%) for the H63D mutation.
  
  
  CONCLUSIONS
  Estimates of prevalence of HFE mutations are within the expected range for non-Hispanic whites and blacks but the estimated prevalence of the C282Y mutation among Mexican-Americans is less than expected. Mutation data now need to be linked to clinically relevant indices, such as transferrin saturation level.
authors.affiliation: Molecular Biology Branch, National Center for Environmental Health, Mailstop F-24, Chamblee, GA 30341, USA. kks1@cdc.gov
authors.forename: K K
authors.initials: KK
authors.lastname: Steinberg
authors.forename: M E
authors.initials: ME
authors.lastname: Cogswell
authors.forename: J C
authors.initials: JC
authors.lastname: Chang
authors.forename: S P
authors.initials: SP
authors.lastname: Caudill
authors.forename: G M
authors.initials: GM
authors.lastname: McQuillan
authors.forename: B A
authors.initials: BA
authors.lastname: Bowman
authors.forename: L M
authors.initials: LM
authors.lastname: Grummer-Strawn
authors.forename: E J
authors.initials: EJ
authors.lastname: Sampson
authors.forename: M J
authors.initials: MJ
authors.lastname: Khoury
authors.forename: M L
authors.initials: ML
authors.lastname: Gallagher
mesh_terms: D005838:Genotype; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000453:epidemiology* / Q000235:genetics*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins; D020125:Mutation, Missense; D009749:Nutrition Surveys; D015995:Prevalence; D014481:United States / Q000453:epidemiology
chemical_list: C103673:HFE protein, human; D006680:HLA Antigens; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins