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Related Concept Videos

Necrosis01:16

Necrosis

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Necrosis is considered as an “accidental” or unexpected form of cell death that ends in cell lysis. The first noticeable mention of “necrosis” was in 1859 when Rudolf Virchow used this term to describe advanced tissue breakdown in his compilation titled “Cell Pathology”.
Morphological Manifestations of Necrosis
Necrotic cells show different types of morphological appearance depending on the type of tissue and infection. In coagulative necrosis, cells become...
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Disorders of Erythrocytes01:27

Disorders of Erythrocytes

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Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Microbes and Other Elemental Cycles01:24

Microbes and Other Elemental Cycles

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Microbial activity plays a pivotal role in the biogeochemical cycling of iron and manganese, especially at the redox gradients characteristic of stratified aquatic environments. These cycles are driven by microbial transformations between oxidized and reduced forms of the metals, allowing organisms to exploit them for metabolic energy and structural purposes.Iron Cycling Across Redox GradientsIn neutral, oxygen-rich surface waters, iron is predominantly found in its oxidized, insoluble ferric...
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The Early Endosome: Endocytosis of Transferrin01:28

The Early Endosome: Endocytosis of Transferrin

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Essential proteins such as insulin or low-density lipoprotein (LDL) and micronutrients such as iron enter a eukaryotic cell through receptor-mediated endocytosis. Subsequently, the early endosomes fuse with the vesicles containing such receptor-ligand complexes and play a vital role in sorting the incoming ligands and receptors. While the ligands are either degraded inside the vesicle or released into the cytosol, their receptors are returned to the plasma membrane for further rounds of...
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Metal-Ligand Bonds02:51

Metal-Ligand Bonds

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The hemoglobin in the blood, the chlorophyll in green plants, vitamin B-12, and the catalyst used in the manufacture of polyethylene all contain coordination compounds. Ions of the metals, especially the transition metals, are likely to form complexes.
In these complexes, transition metals form coordinate covalent bonds, a kind of Lewis acid-base interaction in which both of the electrons in the bond are contributed by a donor (Lewis base) to an electron acceptor (Lewis acid). The Lewis acid in...
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Related Experiment Video

Updated: Apr 6, 2026

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

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[Hemochromatosis].

B Oppl1, J Zwerina

  • 1Ludwig Boltzmann-Institut für Osteologie im Hanusch-Krankenhaus der WGKK und Unfallkrankenhaus Meidling der AUVA, 1. Medizinische Abteilung, Hanusch-Krankenhaus, Heinrich-Collin-Str. 30, 1140, Wien, Österreich.

Zeitschrift Fur Rheumatologie
|July 23, 2015
PubMed
Summary

Hereditary hemochromatosis, an iron overload disorder, is common in Europe. Early diagnosis and phlebotomy can prevent liver damage but do not cure the associated joint disease.

Area of Science:

  • Genetics and Medicine
  • Gastroenterology and Hepatology
  • Rheumatology

Context:

  • Hereditary hemochromatosis (HH) is a common autosomal recessive iron overload disorder, particularly prevalent in Northern and Western Europe.
  • The classical triad of liver cirrhosis, hyperpigmentation, and diabetes is now rare due to early detection.
  • The homozygous C282Y mutation in the HFE gene accounts for most HH cases, with rarer mutations in other genes also identified.

Purpose:

  • To review the genetic basis, clinical manifestations, and management of hereditary hemochromatosis.
  • To highlight the characteristic arthropathy associated with progressive iron overload.
  • To discuss the efficacy of phlebotomy in managing liver complications versus arthropathy.

Summary:

  • Hereditary hemochromatosis results from excessive iron absorption, primarily linked to HFE gene mutations.

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  • Iron overload leads to liver damage (cirrhosis) and a distinct joint disease affecting metacarpophalangeal joints, wrists, and knees.
  • Phlebotomy is the standard treatment for removing excess iron, effectively managing liver disease but not joint manifestations.

    • Impact:

    • Early recognition and treatment of hereditary hemochromatosis can prevent severe liver complications like cirrhosis.
    • Understanding the genetic and clinical spectrum of HH aids in accurate diagnosis and management.
    • Phlebotomy remains crucial for managing iron overload, though joint disease progression requires further research and therapeutic strategies.