title: Natural history of C282Y homozygotes for hemochromatosis.
abstract: OBJECTIVE
  To study the clinical outcomes of subjects who are homozygous for the C282Y mutation of the hemochromatosis gene.
  
  
  METHODS
  All patients referred to a tertiary referral centre for hemochromatosis were included. The study also included 16 C282Y homozygotes detected in a population screening study.
  
  
  RESULTS
  The study comprised 277 C282Y homozygotes, including 16 nonexpressing C282Y homozygotes. The mean follow-up period was 7.3 years (range zero to 44 years). The actuarial survival rates of C282Y homozygotes at five, 10 and 20 years were 95%, 93% and 66%, respectively. Life-threatening diseases (cirrhosis, hepatocellular carcinoma, diabetes, heart disease) were present in 36% of male C282Y homozygotes and 19% of female C282Y homozygotes. Cirrhosis of the liver and diabetes were the major clinical symptoms affecting long term survival. Only one nonexpressing homozygote required venesection therapy during the follow-up period.
  
  
  CONCLUSIONS
  Long term survival is excellent in C282Y homozygotes diagnosed and treated before the development of cirrhosis and diabetes.
authors.affiliation: Department of Medicine, University of Western Ontario, London, Canada.
authors.forename: John P
authors.initials: JP
authors.lastname: Wojcik
authors.forename: Mark R
authors.initials: MR
authors.lastname: Speechley
authors.forename: Ann E
authors.initials: AE
authors.lastname: Kertesz
authors.forename: Subrata
authors.initials: S
authors.lastname: Chakrabarti
authors.forename: Paul C
authors.initials: PC
authors.lastname: Adams
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D006528:Carcinoma, Hepatocellular / Q000209:etiology / Q000235:genetics / Q000401:mortality; D002648:Child; D003920:Diabetes Mellitus / Q000209:etiology / Q000235:genetics / Q000401:mortality; D005260:Female; D005500:Follow-Up Studies; D006333:Heart Failure / Q000209:etiology / Q000235:genetics / Q000401:mortality; D006432:Hemochromatosis / Q000097:blood / Q000235:genetics* / Q000401:mortality; D006720:Homozygote; D006801:Humans; D008103:Liver Cirrhosis / Q000209:etiology / Q000235:genetics / Q000401:mortality; D008131:London / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018962:Phlebotomy; D015995:Prevalence; D012737:Sex Factors; D016019:Survival Analysis; D014168:Transferrin / Q000032:analysis
chemical_list: D014168:Transferrin