Iron overload in light of the identification of a haemochromatosis gene

This review gives a short summary of the most recent advances in the regulation of iron at the molecular level. The clinical consequences of iron overload are discussed and a critical evaluation of the assays used for the estimation of the body iron status provided. The methodology of the search for a candidate gene for hereditary haemochromatosis is described and the results critically evaluated. The importance of widespread population surveys by PCR-based screening tests for the most likely disease-associated mutation is stressed as a means of early diagnosis of hereditary haemochromatosis, enabling prevention of the development of Life-threatening complications of iron overload.