Clinical guidelines: HFE hemochromatosis-screening, diagnosis and management.

摘要

Hemochromatosis associated with HFE C282Y homozygosity affects persons of western European descent, and is the most common and well-characterized primary iron overload disorder worldwide. New clinical practice guidelines summarize current knowledge of the prevalence and penetrance of C282Y homozygosity and provide evidence-based recommendations for diagnosis and management of patients with HFE hemochromatosis.