Population screening in hereditary hemochromatosis

Annu Rev Public Health. 2000;21:65-79. doi: 10.1146/annurev.publhealth.21.1.65.


Hemochromatosis is a common autosomal recessive condition found in the homozygous state in 1/200-1/400 people of northern-, central-, and western-European origin. It causes increased iron storage, which may lead to liver cirrhosis, liver cancer, heart disease, arthritis, and diabetes in many but not all affected adults, with a higher frequency in males. The condition is easily treated by repeated venesections without side effects but is frequently overlooked. Population screening of adults using iron indices alone or combined with DNA testing has therefore been recommended, but a consensus conference in 1997 recommended that such screening be deferred, owing to uncertainty regarding the extent of clinical disease that may develop in individuals detected by such programs. There was also concern that DNA screening results might be used for discrimination in insurance and occupational settings. Screening family members of patients with evidence of definite iron loading, however, is accepted by all observers. Because serious complications may be overlooked, a more aggressive stance toward case detection in the adult population has been advocated by some observers, realizing that unnecessary treatment might occur. Because additional information regarding the spectrum of clinical disease in homozygotes in now accumulating, a consensus conference in the near future is suggested to consider appropriate policies.

Publication types

  • Review

MeSH terms

  • Adult
  • Arthritis / etiology
  • Diagnosis, Differential
  • Genetic Testing / methods*
  • Heart Diseases / etiology
  • Hemochromatosis / complications
  • Hemochromatosis / diagnosis*
  • Hemochromatosis / genetics*
  • Hemochromatosis / therapy
  • Homozygote
  • Humans
  • Liver Diseases / etiology
  • Molecular Biology
  • Phlebotomy
  • Practice Guidelines as Topic
  • Prejudice
  • Public Health Practice