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Related Concept Videos

Jaundice01:25

Jaundice

Jaundice, or icterus, is the yellow discoloration of the skin, sclerae, and mucous membranes. It happens when plasma bilirubin levels rise above 2.5-3 mg/dL, leading to bilirubin deposition in tissue.Bilirubin is a byproduct of hemoglobin degradation. In macrophages, hemoglobin breaks down into globin and heme. Globin is converted into amino acids, while heme is turned into biliverdin by heme oxygenase, which is then reduced to unconjugated bilirubin by biliverdin reductase.Unconjugated...
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Cirrhosis is a chronic, irreversible liver disease characterized by the widespread replacement of healthy liver tissue with fibrotic scar tissue and the formation of regenerative nodules.Etiology of cirrhosisCirrhosis results from sustained liver injury that triggers progressive fibrosis and structural remodeling. The underlying causes are diverse, encompassing common and less frequent clinical conditions. Regardless of the origin, all causes lead to chronic inflammation, hepatocyte loss, and...
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Related Experiment Video

Updated: Jul 12, 2026

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
05:08

Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay

Published on: January 31, 2022

Non-HFE haemochromatosis.

Daniel-F Wallace1, V-Nathan Subramaniam

  • 1Membrane Transport Laboratory, The Queensland Institute of Medical Research, 300 Herston Road, Herston, Brisbane, QLD 4006 Australia.

World Journal of Gastroenterology
|August 31, 2007
PubMed
Summary

Non-HFE hereditary haemochromatosis involves genetic iron overload disorders due to mutations in specific genes. Understanding these conditions enhances knowledge of iron metabolism regulation.

Area of Science:

  • Genetics
  • Molecular Biology
  • Hematology

Background:

  • Hereditary haemochromatosis (HH) is often associated with HFE gene mutations.
  • Non-HFE HH encompasses a spectrum of iron overload disorders with diverse genetic origins.
  • These disorders are crucial for understanding iron homeostasis.

Purpose of the Study:

  • To review the clinical characteristics and molecular basis of non-HFE hereditary haemochromatosis.
  • To elucidate the genetic heterogeneity underlying different forms of non-HFE HH.
  • To highlight the role of non-HFE HH in advancing the understanding of iron metabolism regulation.

Main Methods:

  • Literature review of genetic mutations and clinical presentations.
  • Analysis of gene-protein interactions in iron regulation pathways.

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Last Updated: Jul 12, 2026

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Published on: January 31, 2022

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  • Comparative study of different non-HFE HH types and their molecular underpinnings.

    • Main Results:

    • Identified four main types of non-HFE HH caused by mutations in hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin genes.
    • Distinguished juvenile haemochromatosis (autosomal recessive) and adult-onset HH (autosomal dominant ferroportin disease).
    • Detailed the specific genetic mutations responsible for each non-HFE HH subtype.

    Conclusions:

    • Non-HFE hereditary haemochromatosis presents diverse clinical and genetic profiles.
    • Mutations in hemojuvelin, hepcidin, transferrin receptor 2, and ferroportin genes are key drivers of non-HFE HH.
    • Studying these genetic disorders significantly improves comprehension of systemic iron metabolism control mechanisms.