Haemochromatosis: find them or forget about them?

Abstract

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.