Hereditary hemochromatosis: time for targeted screening.

Annals of Internal Medicine
Pradyumna PhatakKris V Kowdley

Abstract

The discovery of the HFE gene in 1996 heralded a decade of major advances in the understanding of the mechanisms that control iron absorption and body iron stores. A genetic definition of the common form of hereditary hemochromatosis became possible, and testing for the common causative HFE mutations is now widely available in clinical laboratories. Several population screening studies have confirmed that disease penetrance in HFE-related hereditary hemochromatosis is lower than previously believed, making universal population-based screening for this disorder unattractive. However, hereditary hemochromatosis may still cause morbidity and mortality because of iron overload. Early detection and use of appropriate therapy can prevent these manifestations and can only be achieved by targeted case finding. In this article, the authors draw attention again to hereditary hemochromatosis as a cause of preventable organ dysfunction and propose targeted case finding for Caucasian men of Northern European ancestry.

Citations

Feb 2, 2012·European Journal of Human Genetics : EJHG·Roeland HuijgenJan L A van Rijckevorsel
Nov 4, 2010·Nature Reviews. Gastroenterology & Hepatology·Marcin KrawczykFrank Lammert
May 16, 2009·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jacob Alexander, Kris V Kowdley
Apr 30, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Subhashini ChandrasekharanRobert Cook-Deegan
Aug 4, 2009·Journal of Gastroenterology and Hepatology·Jian-Gao FanUNKNOWN Asia-Pacific Working Party for Prevention of Hepatocellular Carcinoma
Dec 10, 2013·Hematology·Susan F Leitman
Jan 1, 2010·Expert Opinion on Medical Diagnostics·John Dever, Kris V Kowdley
Nov 26, 2013·The Medical Clinics of North America·Pushpjeet Kanwar, Kris V Kowdley
May 6, 2009·Best Practice & Research. Clinical Gastroenterology·M C H Janssen, D W Swinkels
Nov 13, 2008·Gastroenterology·Paul C Adams
Apr 1, 2011·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·Bruce R BaconUNKNOWN American Association for the Study of Liver Diseases
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Jul 3, 2018·Expert Review of Gastroenterology & Hepatology·Shmuel GolfeyzIlan S Weisberg
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Aug 30, 2013·Expert Review of Gastroenterology & Hepatology·Pushpjeet Kanwar, Kris V Kowdley
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Feb 7, 2018·Hepatology Communications·Sergio A Sánchez-Luna, Kyle E Brown
Apr 2, 2021·Annual Review of Genomics and Human Genetics·Wylie Burke

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