ABSTRACT
Genetic haemochromatosis is an autosomal recessive inborn error of metabolism, in which there is excessive inappropriate intestinal iron absorption over many years, causing tissue iron overload and damage. It is one of the commonest singlegene disorders. The genetic defect lies on the short arm of chromosome 6. Recent genetic studies have shown that up to 0.3% of caucasians are homozygous (and are therefore affected clinically) and 8-10% are heterozygous (these are carriers, having only a mild elevation of serum iron indices and not at risk of tissue injury). The mechanism of excessive iron absorption is unknown. Increased alcohol intake is known to increase the accumulation of iron in affected patients.
