Appendix Table 2. Inclusion and Exclusion Criteria for Key Questionsa

Key Question 1

Exclusion criteria
  1. Nonhuman study
  2. Non-English-language
  3. Study quality: Does not meet USPSTF criteria for quality
  4. Age < 18 y unless adult data are broken out separately
  5. Study disease definition does not meet our definition of asymptomatic primary iron overload or clinical disease (see 2 below)
  6. Design: Case series, editorial, letter, case-control study, review
  7. Does not report relevant prevalence or risk factors
  8. Not a screening population
  9. Does not include C282Y genotyping in screening sequence
  10. Mediterranean populations
Inclusion criteria
  1. Population: Adults > age 18 y, population applicable to United States (United States, Europe, Australia, New Zealand, Canada), screening population with elevated iron measures, asymptomatic iron overload, or HFE C282Y homozygosity
  2. Disease: Meets our disease definition (liver fibrosis, cirrhosis, hepatic failure, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, or arthropathy attributable to iron overload)
  3. Design: Cohort or cross-sectional study
  4. Measures: Risk or prevalence of asymptomatic iron overload

Key Question 2

Exclusion criteria
  1. Nonhuman study
  2. Non-English-language
  3. Study quality: Does not meet USPSTF criteria for quality
  4. Age < 18 y unless adult data are broken out separately
  5. Study disease definition does not meet our definition of disease (see 2 below)
  6. Design: Case study, editorial, letter, case series with < 20 patients, review
  7. Does not report relevant outcomes
  8. Not phlebotomy treatment
  9. Mediterranean populations
Inclusion criteria
  1. Population: Adults > age 18 y, population applicable to United States (United States, Europe, Australia, New Zealand, Canada), primary iron overload
  2. Disease: Meets our disease definition (liver fibrosis, cirrhosis, hepatic failure, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, or arthropathy attributable to iron overload)
  3. Outcomes: Incidence, severity, or progression of clinical hemochromatosis or iron measures, nonspecific symptoms

Key Question 3

Exclusion criteria
  1. Nonhuman study
  2. Non-English-language
  3. Study quality: Does not meet USPSTF criteria for quality
  4. Age < 18 y unless adult data are broken out separately
  5. Study disease definition does not meet our definition of disease (see 2 below)
  6. Design: Case series, editorial, letter, review
  7. Does not report relevant prevalence or risk measures
  8. Does not include original data
  9. Not the correct population
  10. Excludes Mediterranean populations
  11. No HFE testing
Inclusion criteria
  1. Population: Adults > age 18 y, population applicable to United States (United States, Europe, Australia, New Zealand, Canada)
  2. Disease: Meets our disease definition (liver fibrosis, cirrhosis, hepatic failure, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, or arthropathy attributable to iron overload)
  3. Design: cohort, case-control, or cross-sectional study
  4. Prevalence or incidence of hemochromatosis or risk for developing hemochromatosis

aUSPSTF = U.S. Preventive Services Task Force.

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