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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”.
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Disorders of Erythrocytes01:27

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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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Metal-Ligand Bonds02:51

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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.
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Disorders of Hemostasis01:24

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Hemostasis, the process that stops bleeding after a blood vessel injury, is crucial for maintaining the integrity of the circulatory system. However, disorders of hemostasis can disrupt this delicate balance, leading to either excessive clotting or bleeding. These disorders can be broadly classified into thromboembolic disorders and bleeding disorders.
Thromboembolic Disorders
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Multiple Allele Traits01:49

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Hemoglobin01:24

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Hemoglobin is a globular protein made up of four subunits. Two of these subunits are alpha chains, and the other two are beta chains. Each subunit contains a molecule of heme, which has an iron atom and can bind to oxygen. When an oxygen molecule binds to one heme group, it changes the shape of hemoglobin, making it easier for the other heme groups to bind oxygen as well.
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Updated: May 28, 2025

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

William C Palmer1, Fernando F Stancampiano2

  • 1Professor of Medicine, Division of Gastroenterology and Hepatology, Mayo Clinic Florida, Jacksonville, Florida (W.C.P.).

Annals of Internal Medicine
|February 10, 2025
PubMed
Summary
This summary is machine-generated.

Hereditary hemochromatosis is a common genetic disorder primarily affecting individuals of European descent. Early diagnosis through standard hematologic testing and treatment with phlebotomy can prevent severe organ damage and improve patient outcomes.

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Area of Science:

  • Genetics and наследственные заболевания
  • Internal Medicine
  • Hematology

Background:

  • Hemochromatosis is an inheritable disorder primarily impacting White populations of European descent.
  • While many patients are asymptomatic, some develop severe organ damage, affecting quality of life and survival.
  • Key clinical manifestations include arthropathy, diabetes mellitus, cirrhosis, hypogonadotropic hypogonadism, and cardiomyopathy.

Purpose of the Study:

  • To emphasize the crucial role of primary care and hospital medicine physicians in the early identification of hemochromatosis.
  • To highlight the effectiveness of standard hematologic testing for diagnosis.
  • To underscore the benefits of early diagnosis and therapeutic phlebotomy in improving clinical outcomes.

Main Methods:

  • Review of clinical manifestations and diagnostic approaches for hemochromatosis.
  • Emphasis on the role of standard hematologic testing in early disease detection.
  • Discussion of therapeutic phlebotomy as a primary treatment modality.

Main Results:

  • Hemochromatosis is a prevalent genetic condition, particularly in specific populations.
  • Early identification is achievable through routine hematologic assessments.
  • Prompt diagnosis and treatment significantly mitigate disease progression and complications.

Conclusions:

  • Early diagnosis of hemochromatosis via standard hematologic testing is vital.
  • Therapeutic phlebotomy is an effective treatment that improves outcomes.
  • Physicians play a critical role in the timely identification and management of this condition.