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

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...
Serum Laboratory Studies, Stool Test, Breath Test01:30

Serum Laboratory Studies, Stool Test, Breath Test

Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
Portal Hypertension01:22

Portal Hypertension

Portal hypertension is an increase in blood pressure within the portal venous system. Normally, this pressure is less than 5 mmHg. It is considered clinically significant when it rises above 10 mmHg. At this threshold, complications from altered blood flow and venous congestion emerge.EtiologyPortal hypertension arises from conditions that impede blood flow through the liver. The most common cause is cirrhosis, in which chronic liver injury leads to fibrotic scarring. This fibrosis narrows or...
Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test01:22

Effect of Hepatic Disease on Pharmacokinetics: Pathophysiologic Assessment and Liver Function Test

In clinical practice, the direct measurement of hepatic blood flow to evaluate liver function presents significant challenges due to the intricate and specialized nature of the necessary techniques. Consequently, healthcare professionals often rely on empirical estimates derived from thorough patient examinations and liver function tests to gauge liver health. Among the tools at their disposal, the Child–Pugh and MELD scoring systems stand out for their ability to categorize and assess the...

You might also read

Related Articles

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

Sort by
Same author

Clinical Characteristics and Outcomes of Small Bowel Neoplasms in Crohn's Disease: A Case-Control Study.

Crohn's & colitis 360·2025
Same author

KRAS Promotes GLI2-Dependent Transcription during Pancreatic Carcinogenesis.

Cancer research communications·2024
Same author

Interleukin 21 Drives a Hypermetabolic State and CD4<sup>+</sup> T-Cell-Associated Pathogenicity in Chronic Intestinal Inflammation.

Gastroenterology·2024
Same author

CT findings in idiopathic myointimal hyperplasia of mesenteric veins (IMHMV) and comparison to other colitides.

Abdominal radiology (New York)·2023
Same author

Diarrhea, Colonic Stenoses, and a Kinase Inhibitor.

Gastroenterology·2022
Same author

G9a Modulates Lipid Metabolism in CD4 T Cells to Regulate Intestinal Inflammation.

Gastroenterology·2022

Related Experiment Video

Updated: Jun 2, 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

Hereditary hemochromatosis: laboratory evaluation.

Thomas P Moyer1, W Edward Highsmith, Thomas C Smyrk

  • 1Department of Laboratory Medicine & Pathology, Division of Clinical Biochemistry & Immunology, Mayo Clinic, Rochester, MN 55905, United States. moyer.thomas@mayo.edu

Clinica Chimica Acta; International Journal of Clinical Chemistry
|April 23, 2011
PubMed
Summary

Hereditary hemochromatosis (HH) involves iron overload due to genetic defects. Clinical labs aid diagnosis and therapy monitoring, with HFE gene testing crucial, but alternative methods are needed for non-HFE cases.

More Related Videos

Setup of Capillary Electrophoresis-Inductively Coupled Plasma Mass Spectrometry (CE-ICP-MS) for Quantification of Iron Redox Species (Fe(II), Fe(III))
04:48

Setup of Capillary Electrophoresis-Inductively Coupled Plasma Mass Spectrometry (CE-ICP-MS) for Quantification of Iron Redox Species (Fe(II), Fe(III))

Published on: May 4, 2020

Related Experiment Videos

Last Updated: Jun 2, 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

Setup of Capillary Electrophoresis-Inductively Coupled Plasma Mass Spectrometry (CE-ICP-MS) for Quantification of Iron Redox Species (Fe(II), Fe(III))
04:48

Setup of Capillary Electrophoresis-Inductively Coupled Plasma Mass Spectrometry (CE-ICP-MS) for Quantification of Iron Redox Species (Fe(II), Fe(III))

Published on: May 4, 2020

Area of Science:

  • Clinical Biochemistry
  • Genetics
  • Hepatology

Background:

  • Hereditary hemochromatosis (HH) is characterized by iron overload resulting from genetic abnormalities in iron metabolism.
  • Clinical laboratories are essential for diagnosing, validating, and monitoring HH.
  • Elevated iron markers can indicate HH but also other liver conditions.

Purpose of the Study:

  • To outline the diagnostic and monitoring roles of clinical laboratories in hereditary hemochromatosis.
  • To discuss the utility and limitations of HFE gene testing in HH diagnosis.
  • To highlight alternative diagnostic approaches for HH cases without HFE mutations.

Main Methods:

  • Review of diagnostic markers including serum iron, transferrin saturation, and ferritin.
  • Discussion of HFE gene mutation analysis as a primary diagnostic tool.
  • Consideration of advanced imaging (MRI) and liver biopsy for iron quantification.

Main Results:

  • Elevated iron markers suggest HH but require exclusion of secondary causes.
  • HFE gene testing confirms HH in most cases, but 5-15% of phenotypic HH patients lack HFE mutations.
  • MRI or liver biopsy are indicated for diagnosing HH in HFE-negative individuals.

Conclusions:

  • Clinical laboratories are pivotal in the multi-faceted approach to diagnosing and managing hereditary hemochromatosis.
  • While HFE gene testing is key, alternative diagnostic strategies are necessary for a subset of patients.
  • The role of hepcidin in HH diagnosis and management remains under investigation due to its complex functions.