The epidemiology of haemochromatosis: a population-based study

The discovery of the HFE genotype has revolutionized the diagnosis of haemochromatosis, changing the associated mortality and morbidity.

To investigate the clinical significance of a diagnosis of haemochromatosis.

In a cohort study, we identified 501 people with haemochromatosis and 4950 age- and gender-matched controls from the UK General Practice Research Database between 1987 and 2002.

The incidence of a diagnosis of haemochromatosis increased approximately 2-fold over the study period and was associated with a 2.2-fold increase in mortality [hazard ratio, 95% confidence interval (95% CI), 1.6-3.0]. There was no increase in extra hepatic malignancy, but an absolute risk excess of liver cancer of 0.89% per year. Diabetes, impotence, osteoarthritis and crystal arthritis were associated with haemochromatosis with odds ratios of 5.4 (95% CI, 4.1-7.0), 2.7(95% CI, 1.8-4.0), 1.9(95% CI, 1.5-2.4) and 2.1(95% CI, 1.4-3.1) respectively.

Increasing numbers of people are being diagnosed with haemochromatosis, and the mortality associated with this disease remains high. However, people are living with considerably lower levels of morbidity than previously reported. This encouragingly suggests earlier diagnoses are being made, prior to the development of complications.