Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Haemochromatosis.

Paul C Adams1, James C Barton

  • 1University Hospital, London, ON, Canada. padams@uwo.ca

Lancet (London, England)
|December 7, 2007
PubMed
Summary
This summary is machine-generated.

Hereditary hemochromatosis is a common genetic disorder. While some develop severe liver disease, many C282Y mutation carriers remain asymptomatic, highlighting the need for personalized monitoring and treatment.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Estimates of European Ancestry in U.S. Hispanics Using <i>HFE</i> p.C282Y (c.845G>A; rs1800562), a Highly Informative Autosomal Marker.

Genetic testing and molecular biomarkers·2026
Same author

Serum IgA and IgM levels in hemochromatosis probands with HFE p.C282Y homozygosity.

PloS one·2026
Same author

A Decreasing North-to-South Gradient of <i>HFE</i> p.C282Y (rs1800562) Allele Frequencies in Iberia: An Analysis of 34 Population/Control Cohorts.

Genes·2026
Same author

Mean Corpuscular Volume in <i>HFE</i> p.C282Y/p.H63D Compound Heterozygotes With High Iron Phenotypes: Clinical and Laboratory Associations.

Journal of hematology·2026
Same author

Comparisons of iron phenotypes and reports of menses, pregnancies, and live births in women with <i>HFE</i> p.C282Y homozygosity and <i>HFE</i> wt/wt.

medRxiv : the preprint server for health sciences·2026
Same author

Macrocyte subpopulations in hemochromatosis probands with HFE p.C282Y homozygosity: Clinical and laboratory associations.

The American journal of the medical sciences·2026
Same journal

Assisted dying and the silencing of medicine's next generation.

Lancet (London, England)·2026
Same journal

Linguistic pragmatism: a woman with progressive abdominal pain in Thailand.

Lancet (London, England)·2026
Same journal

Medical compartmentalisation: a patient with chromosome 22q11.2 deletion syndrome in Japan.

Lancet (London, England)·2026
Same journal

[<sup>177</sup>Lu]Lu-edotreotide versus everolimus for gastroenteropancreatic neuroendocrine tumours (COMPETE): a phase 3, multicentre, randomised, open-label, superiority trial.

Lancet (London, England)·2026
Same journal

Research priorities for characterising Bundibugyo virus.

Lancet (London, England)·2026
Same journal

Rethinking treatment sequence in advanced gastroenteropancreatic neuroendocrine tumours.

Lancet (London, England)·2026
See all related articles

Area of Science:

  • Genetics
  • Hepatology
  • Internal Medicine

Background:

  • Hereditary hemochromatosis, linked to the HFE gene discovered in 1996, is a prevalent genetic disorder.
  • Clinical presentation varies widely, from asymptomatic individuals to severe cirrhosis with high mortality.
  • Population screening has identified numerous asymptomatic C282Y mutation homozygotes who do not develop iron overload.

Purpose of the Study:

  • To summarize recent advancements in understanding hereditary hemochromatosis.
  • To highlight the variable penetrance of the C282Y mutation.
  • To discuss diagnostic markers and therapeutic outcomes.

Main Methods:

  • Review of existing literature on hereditary hemochromatosis.
  • Analysis of population screening data for C282Y mutation carriers.

Related Experiment Videos

  • Evaluation of diagnostic tests like transferrin saturation and serum ferritin.
  • Assessment of phlebotomy therapy's efficacy.

    • Main Results:

    • Many individuals with the C282Y mutation remain asymptomatic despite homozygosity.
    • Transferrin saturation and serum ferritin are useful diagnostic indicators.
    • Phlebotomy treatment has shown effectiveness in improving hepatic fibrosis.
    • Genetic testing for hereditary hemochromatosis is generally well-accepted.

    Conclusions:

    • Hereditary hemochromatosis exhibits variable clinical penetrance.
    • Early diagnosis and monitoring are crucial for managing the disorder.
    • Phlebotomy remains a key therapeutic intervention for affected individuals.