Haemochromatosis: find them or forget about them?
Haemochromatosis continues to be considered an uncommon disease despite large scale population screening studies demonstrating a high prevalence of C282Y homozygotes of approximately 1 in 200. Since many of the C282Y homozygotes that are discovered through screening are asymptomatic, or have non-specific symptoms commonly found in the ageing population, the attribution of any symptoms to haemochromatosis has become increasingly difficult. The demonstration of significant liver disease in family members is a strong reminder of the vital importance of pedigree studies when a typical haemochromatosis patient is identified.
Adams
Paul C
PC
Department of Medicine, London Health Sciences Centre, Ontario, Canada. padams@uwo.ca
D005820:Genetic Testing; D006432:Hemochromatosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D019190:Iron Overload / Q000209:etiology; D008107:Liver Diseases / Q000209:etiology*; D010375:Pedigree