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Related Experiment Video

Updated: Jul 14, 2026

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

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

Published on: January 31, 2022

[Non-HFE-related hereditary iron overload].

Patricia Aguilar-Martinez¹

¹Laboratoire d'hématologie, CHU Montpellier, Hôpital Saint-Eloi. p-martinez@chu-montpellier.fr

Presse Medicale (Paris, France : 1983)

|June 2, 2007

Summary

Hereditary iron overload, primarily from HFE gene mutations, involves excessive dietary iron absorption due to low hepcidin. Rare non-HFE forms include ferroportin disease, impacting iron release.

Area of Science:

Genetics
Hematology
Metabolic Disorders

Background:

Hereditary iron overload is predominantly caused by HFE gene mutations, leading to hereditary hemochromatosis.
Non-HFE related iron overload conditions are rare and encompass other genetic mutations and ferroportin disease.

Purpose of the Study:

To differentiate between HFE-related and non-HFE related hereditary iron overload conditions.
To outline the genetic basis and clinical characteristics of various hereditary iron overload disorders.

Main Methods:

Review of genetic mutations associated with hereditary hemochromatosis and ferroportin disease.
Analysis of clinical and biological characteristics, including inheritance patterns and iron metabolism markers.

Main Results:

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Last Updated: Jul 14, 2026

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

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

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

Published on: March 14, 2017

HFE and TFR2 genes are linked to adult hereditary hemochromatosis; HAMP and HJV genes to juvenile forms.
All hereditary hemochromatosis types exhibit autosomal recessive inheritance, elevated transferrin saturation, hepatic iron overload, and phlebotomy responsiveness.
Ferroportin disease, caused by SLC40A1 mutations, presents dominant inheritance and affects iron release from reticuloendothelial cells.

Conclusions:

Hereditary iron overload stems from impaired hepcidin regulation or iron release mechanisms.
Understanding the genetic basis is crucial for diagnosing and managing diverse iron overload conditions.