Psychosocial impact of C282Y mutation testing for hemochromatosis

Genet Test. 2001 Summer;5(2):107-10. doi: 10.1089/109065701753145556.


The aim of this study was to investigate the psychological effects of genetic testing for hemochromatosis. Study participants included cases discovered through a population screening study in 5211 voluntary blood donors (n = 25) and patients referred for diagnostic evaluation for hemochromatosis (n = 117). Participants completed questionnaires (Spielberger State-Trait Anxiety Index, Medical Outcomes Survey Short Form 36) before and after genetic testing. A subset of participants from the screening study was also interviewed 1 year after testing (Feelings About Test Results Measure). Additional questions included data on insurance applications, time off from work, and family issues. Anxiety significantly decreased in homozygotes and heterozygotes after genetic testing and remained constant in C282Y mutation-negative cases. Vitality and physical composite scores improved after genetic testing. There were no significant deleterious psychological effects of genetic testing on anxiety and on mental and physical health status. There were no negative effects discovered on insurance or time off work. This study has not demonstrated deleterious effects of genetic testing for hemochromatosis on anxiety, mental health and physical health status, insurance, or time off from work. Genetic testing for hemochromatosis is well accepted and should not be discouraged on the basis of potential adverse psychosocial effects.

Publication types

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

MeSH terms

  • Absenteeism
  • Adult
  • Amino Acid Substitution*
  • Anxiety / etiology
  • Blood Donors
  • Emotions
  • Female
  • Ferritins / blood
  • Genetic Testing / psychology*
  • HLA Antigens / genetics*
  • Hemochromatosis / genetics*
  • Hemochromatosis / psychology
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I / genetics*
  • Humans
  • Insurance Selection Bias
  • Male
  • Membrane Proteins*
  • Middle Aged
  • Mutation, Missense*
  • Psychology
  • Surveys and Questionnaires
  • Time Factors


  • HFE protein, human
  • HLA Antigens
  • Hemochromatosis Protein
  • Histocompatibility Antigens Class I
  • Membrane Proteins
  • Ferritins