• hereditary haemochromatosis

Ryan and colleagues (Gut 2002;51:108–12) note that the expected homozygote frequency of 1 in 83 for the HFE C282Y mutation is not reflected in the number of patients with haemochromatosis seen in a clinical setting. Accordingly, they have studied family members of patients with haemochromatosis as a surrogate for population screening. As they point out, there are probably genes other than HFE that affect the expression of hereditary haemochromatosis, and such genes are likely to be overrepresented in the families …