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Related Concept Videos

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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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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Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
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Related Experiment Video

Updated: Mar 24, 2026

Quantitating Iron Transport Across the Mouse Placenta In Vivo Using Nonradioactive Iron Isotopes
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[Iron-refractory iron deficiency anemia].

Hiroshi Kawabata1

  • 1Department of Hematology and Oncology, Graduate School of Medicine, Kyoto University.

[Rinsho Ketsueki] the Japanese Journal of Clinical Hematology
|March 4, 2016
PubMed
Summary

Iron deficiency anemia (IDA) stems from blood loss, high iron needs, or poor absorption. A rare genetic form, iron-refractory IDA (IRIDA), results from TMPRSS6 mutations affecting hepcidin levels.

Area of Science:

  • Hematology
  • Genetics
  • Gastroenterology

Context:

  • Iron deficiency anemia (IDA) is a prevalent condition with diverse causes, including bleeding, increased requirements, and malabsorption.
  • Common IDA etiologies in Japan involve menstrual blood loss, autoimmune atrophic gastritis, and Helicobacter pylori infection.
  • A distinct genetic cause, iron-refractory IDA (IRIDA), arises from TMPRSS6 mutations.

Purpose:

  • To elucidate the mechanisms and diagnostic challenges of iron-refractory IDA (IRIDA).
  • To differentiate IRIDA from common IDA based on clinical and biochemical features.
  • To highlight the role of TMPRSS6 mutations in iron homeostasis disruption.

Summary:

  • IDA causes include bleeding, increased needs, and reduced intestinal absorption (e.g., H. pylori).

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  • IRIDA, caused by TMPRSS6 mutations, leads to elevated hepcidin, impairing iron supply to erythropoietic cells.
  • IRIDA presents as microcytic, hypochromic anemia but lacks low serum ferritin; it's refractory to oral iron.
  • Impact:

    • Understanding IRIDA's genetic basis is crucial for accurate diagnosis and management.
    • Genetic testing is essential for identifying IRIDA, which may otherwise be misdiagnosed.
    • This knowledge aids in differentiating genetic IDA forms from acquired ones, improving patient care.