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 Concept Videos

Disorders of Erythrocytes01:27

Disorders of Erythrocytes

2.0K
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...
2.0K
Translation01:31

Translation

154.7K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
154.7K
Translation01:31

Translation

17.3K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
17.3K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

630
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
630
Disorders of Hemostasis01:24

Disorders of Hemostasis

1.8K
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
Two factors primarily cause thromboembolic conditions.
1.8K
Sex-linked Disorders01:43

Sex-linked Disorders

107.8K
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
107.8K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Characterization of ferroportin disease and SLC40A1-related hemochromatosis - Results from the EASL non-HFE registry.

Journal of hepatology·2026
Same author

In Reply to Reference Intervals for Ceruloplasmin Should Account for Age, Sex, Method, and Local Population.

The journal of applied laboratory medicine·2025
Same author

β-thalassemia trait and iron overload: is it time to consider oral iron chelators? Comment on: "A case series of patients with β-thalassemia trait and iron overload: from multifactorial hepcidin suppression to treatment with mini-phlebotomies".

Haematologica·2025
Same author

Pregnancy and childbirth in women with thalassemia: past and present.

Haematologica·2025
Same author

Emerging nanocarrier systems for the enhanced delivery of active pharmaceutical ingredients to the intestine.

Nanomedicine (London, England)·2025
Same author

Transferrin Saturation and Serum Ferritin Are Main Predictors of Liver Iron Content in Subjects With Hyperferritinemia.

Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association·2025
Same journal

Landscape of clinical trials and impact of precision medicine in biliary tract cancers in the last 45 years: a systematic review and meta-analysis of biomarker-driven trials.

Translational gastroenterology and hepatology·2026
Same journal

Safely targeting combination TNF and IL-23 using a gut-restricted and orally delivered therapeutic approach: proof-of-concept for the development of SOR102 in ulcerative colitis.

Translational gastroenterology and hepatology·2026
Same journal

Development and validation of a nomogram for predicting postoperative survival in gallbladder cancer.

Translational gastroenterology and hepatology·2026
Same journal

Emphysematous gastritis: a systematic review of reported cases exploring predictors of mortality.

Translational gastroenterology and hepatology·2026
Same journal

Effect of preoperative biliary drainage on peripheral circulating tumor cells after pancreaticoduodenectomy in patients with resectable periampullary carcinoma and obstructive jaundice.

Translational gastroenterology and hepatology·2026
Same journal

The impact of sedation on adenoma and polyp detection rates in colonoscopy: an evidence-informed narrative review.

Translational gastroenterology and hepatology·2026
See all related articles

Related Experiment Video

Updated: Dec 24, 2025

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

20.2K

Inherited iron overload disorders.

Alberto Piperno1,2, Sara Pelucchi1, Raffaella Mariani2

  • 1Department of Medicine and Surgery, University of Milano-Bicocca, Monza, Italy.

Translational Gastroenterology and Hepatology
|April 8, 2020
PubMed
Summary
This summary is machine-generated.

Hereditary iron overload disorders stem from genetic mutations affecting iron regulation, leading to excess iron accumulation. Diagnosis combines clinical, imaging, biochemical, and genetic data, with management focusing on blood removal and iron chelators.

Keywords:
Iron overloadferritintransferrin saturation

More Related Videos

Author Spotlight: Assessing the Impact of Novel Iron Chelators on Cancer Cell Metabolism
05:36

Author Spotlight: Assessing the Impact of Novel Iron Chelators on Cancer Cell Metabolism

Published on: February 23, 2024

805
Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
07:32

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining

Published on: May 23, 2025

945

Related Experiment Videos

Last Updated: Dec 24, 2025

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload
05:23

Continuous Manual Exchange Transfusion for Patients with Sickle Cell Disease: An Efficient Method to Avoid Iron Overload

Published on: March 14, 2017

20.2K
Author Spotlight: Assessing the Impact of Novel Iron Chelators on Cancer Cell Metabolism
05:36

Author Spotlight: Assessing the Impact of Novel Iron Chelators on Cancer Cell Metabolism

Published on: February 23, 2024

805
Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining
07:32

Assessing Iron Deposition in the Brains of 5xFAD Mice by Perls'/DAB Staining

Published on: May 23, 2025

945

Area of Science:

  • Genetics and Molecular Biology
  • Hematology
  • Metabolic Disorders

Background:

  • Hereditary iron overload encompasses diverse genetic disorders causing iron accumulation in tissues.
  • These conditions arise from mutations in genes regulating hepcidin, iron uptake, transport, and storage.
  • Clinical presentation includes elevated serum ferritin and transferrin saturation, with or without anemia.

Purpose of the Study:

  • To provide a comprehensive overview of hereditary iron overload disorders.
  • To elucidate the genetic basis and molecular mechanisms underlying these conditions.
  • To outline diagnostic strategies and therapeutic approaches for iron overload management.

Main Methods:

  • Review of genetic mutations affecting iron metabolism pathways.
  • Analysis of clinical, biochemical, and imaging diagnostic criteria.
  • Summary of current management strategies, including phlebotomy and chelation therapy.

Main Results:

  • Identified five genetic forms of hemochromatosis linked to hepcidin dysregulation.
  • Described ferroportin disease (SLC40A1 mutations) and aceruloplasminemia.
  • Detailed iron-deficient erythropoiesis in atransferrinemia and DMT1 deficiency.

Conclusions:

  • Hereditary iron overload disorders are genetically heterogeneous, impacting iron homeostasis.
  • Accurate diagnosis requires integrated clinical, biochemical, and genetic evaluation.
  • Therapeutic interventions aim to reduce iron burden and manage specific complications.