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Measurement of Tissue Non-Heme Iron Content using a Bathophenanthroline-Based Colorimetric Assay
05:08

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Published on: January 31, 2022

Screening for hereditary haemochromatosis.

Itty M Nadakkavukaran1, Eng K Gan, John K Olynyk

  • 1Department of Gastroenterology, Fremantle Hospital, Fremantle, Australia.

Pathology
|December 27, 2011
PubMed
Summary

Hereditary hemochromatosis (HH) is a common iron overload disorder. Early detection via HFE genotyping and biochemical tests allows for phlebotomy treatment, normalizing life expectancy and preventing severe complications.

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Area of Science:

  • Genetics
  • Gastroenterology
  • Oncology

Background:

  • Hereditary hemochromatosis (HH) is a prevalent autosomal recessive iron overload disorder, particularly in Caucasian populations.
  • Clinical symptoms typically manifest in individuals with C282Y HFE gene mutations and significant iron accumulation.
  • Early detection and phlebotomy treatment can normalize life expectancy.

Purpose of the Study:

  • To outline current screening and diagnostic approaches for hereditary hemochromatosis.
  • To discuss the evolving understanding of HH's natural history and clinical impact.
  • To provide recommendations for HH screening strategies.

Main Methods:

  • Serum transferrin saturation and ferritin levels for initial evaluation of iron overload.
  • HFE genotyping combined with biochemical measurements for family screening.
  • Hepatic iron concentration or total iron burden via phlebotomy for definitive diagnosis.

Main Results:

  • A minority of C282Y homozygotes develop classical 'iron overload disease'.
  • HH may increase the risk for breast and colorectal cancers.
  • Genetic and environmental factors influence disease penetrance and clinical expression.

Conclusions:

  • Cascade screening of families, case-finding in high-risk groups, and community awareness are recommended.
  • Generalized population screening for HH is not currently advised.
  • Early diagnosis and treatment are crucial for managing HH and its associated risks.