Screening for hereditary hemochromatosis: A clinical practice guideline from the American College Of Physicians

Amir Qaseem*, Mark Aronson, Nick Fitterman, Vincenza Snow, Kevin B. Weiss, Douglas K. Owens

*Corresponding author for this work

Research output: Contribution to journalReview article

76 Scopus citations

Abstract

Hereditary hemochromatosis is a genetic disorder of iron metabolism. Diagnosis of hereditary hemochromatosis is usually based on a combination of various genetic or phenotypic criteria. Decisions regarding screening are difficult because of the variable penetrance of mutations of the HFE gene and the absence of any definitive trials addressing the benefits and risks of therapeutic phlebotomy in asymptomatic patients or those with only laboratory abnormalities. The purpose of this guideline is to increase physician awareness of hereditary hemochromatosis, particularly the variable penetrance of genetic mutations; aid in case finding; and explain the role of genetic testing. This guideline provides recommendations based on a review of evidence in the accompanying background paper by Schmitt and colleagues. The target audience for this guideline is internists and other primary care physicians. The target patient population is all persons who have a probability or susceptibility of developing hereditary hemochromatosis, including the relatives of individuals who already have the disease.

Original languageEnglish (US)
Pages (from-to)517-521
Number of pages5
JournalAnnals of Internal Medicine
Volume143
Issue number7
DOIs
StatePublished - Oct 4 2005

ASJC Scopus subject areas

  • Internal Medicine

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