Should we screen for hemochromatosis? An examination of evidence of downstream effects on morbidity and mortality

Arch Intern Med. 2002 Aug;162(15):1769-74. doi: 10.1001/archinte.162.15.1769.


Background: Population-based hemochromatosis screening has been suggested with the rationale that identification and treatment of subclinical disease would decrease morbidity and mortality due to hemochromatosis.

Objective: To examine the prevalence of elevated serum transferrin saturation levels and the burden of illness of hemochromatosis in terms of ambulatory visits, hospitalizations, and death in the United States.

Participants and methods: Four nationally representative data sets were used for the analysis of the prevalence of hemochromatosis as well as ambulatory care, hospitalizations, and deaths related to hemochromatosis. Participants included men and nonpregnant women aged 18 years and older in the Third National Health and Nutrition Examination Survey (1988-1994) and the 1996, 1997, and 1998 National Ambulatory Care Survey, National Hospital Discharge Survey, and Underlying Cause-of-Death Mortality Files. The data sets were based on single measurements of serum transferrin saturation levels, serum ferritin levels, and healthcare provider-recorded diagnoses according to the International Classification of Diseases, Ninth Revision, Clinical Modification, code for hemochromatosis.

Results: The prevalence of elevated serum transferrin saturation levels ranged from 1% to 6%. When an elevated serum transferrin saturation level of 55% is combined with an elevated serum ferritin level, the prevalence decreases from 1.9% to 0.65%. The proportion of diagnosed hemochromatosis utilization out of total ambulatory visits, hospitalizations, and deaths is stable across the measures and the 3 years of data ranging from 0.01% to 0.03%. When white men were examined separately, the relationships remained the same as those among the general population of adults.

Conclusions: Although a substantial proportion of adults whose condition is not currently diagnosed would be identified in a population-based screening program for subclinical hemochromatosis, diagnosed morbidity or mortality owing to hemochromatosis is considerably lower than would be expected. Recommendations for screening programs may need to be revisited.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Biomarkers / blood
  • Evidence-Based Medicine
  • Female
  • Hemochromatosis / blood
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / mortality*
  • Humans
  • Male
  • Mass Screening
  • Middle Aged
  • Morbidity
  • Prevalence
  • Transferrin / metabolism
  • United States / epidemiology


  • Biomarkers
  • Transferrin