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

DNA testing for haemochromatosis: diagnostic, predictive and screening implications.

R J Trent1, H Le, B Yu

  • 1Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown NSW, Australia. rtrent@med.usyd.edu.au

Pathology
|February 24, 2001
PubMed
Summary

DNA testing for hereditary haemochromatosis (HH) is available, but results require clinical context. The HFE gene testing, including common mutations like C282Y, is useful but has limitations in certain ethnic groups.

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

Characterizing and predicting the relationship between translaminar fracture toughness and pull-out length distributions under distinct temperatures.

Philosophical transactions. Series A, Mathematical, physical, and engineering sciences·2022
Same author

[Naringenin inhibits thoracic aortic aneurysm formation in mice with Marfan syndrome].

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences·2022
Same author

[Research advances on interleukin-6 in hypertrophic scar formation].

Zhonghua shao shang yu chuang mian xiu fu za zhi·2022
Same author

[A retrospective controlled study on the treatment effect of distraction osteogenesis and maxillomandibular advancement for severe obstructive sleep apnea hypopnea syndrome patients].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology·2022
Same author

Corrigendum to "Fermented soybean meal increases nutrient digestibility via the improvement of intestinal function, anti-oxidative capacity and immune function of weaned pigs" [Animal 16(6) (2022) 100557].

Animal : an international journal of animal bioscience·2022
Same author

miRNA-mRNA associations with inosine monophosphate specific deposition in the muscle of Jingyuan chicken.

British poultry science·2022

Area of Science:

  • Genetics
  • Molecular Biology
  • Clinical Medicine

Background:

  • Hereditary haemochromatosis (HH) diagnosis is aided by HFE gene identification since 1996.
  • DNA testing for HH includes diagnostic, predictive, and screening purposes.
  • Australian Medicare rebates facilitate access to genetic disorder testing.

Purpose of the Study:

  • To report experience with semi-automated HFE DNA testing for common mutations (C282Y, H63D).
  • To assess the utility of C282Y mutation testing in specific ethnic groups and haemoglobinopathies.
  • To illustrate the combined role of C282Y and H63D mutations in iron overload.

Main Methods:

  • Semi-automated HFE DNA testing enabling multiplexing of C282Y and H63D mutations.
  • Screening of beta-thalassaemia major and sickle cell anaemia patients of Mediterranean origin.

Related Experiment Videos

  • Analysis of an Australian family to determine mutation contribution to iron overload.

    • Main Results:

    • Mediterranean patients with haemoglobinopathies lacked the C282Y mutation, excluding it in their iron overload pathogenesis.
    • C282Y mutation testing has limited value in investigating HH in certain ethnic groups.
    • The study identified a low frequency of the S65C HFE gene mutation in tested populations.

    Conclusions:

    • HFE DNA testing is a valuable tool for hereditary haemochromatosis but requires interpretation alongside clinical findings.
    • Phenotypic markers remain essential in specific HH diagnostic scenarios.
    • The prevalence and significance of HFE mutations vary across different ethnic backgrounds and conditions.