RAPID DIAGNOSIS OF ASYMPTOMATIC HEREDITARY HEMOCHROMATOSIS BY DETECTION OF THE CYS282TYR MUTATION IN THE HLA-H GENE

Hereditary haemochromatosis is an autosomal recessive disorder charact erised by life-long excessive accumulation of iron. A candidate gene f or hereditary haemochromatosis has recently been reported (HLA-H) and a specific missense mutation (Cys282Tyr) has been identified in 85% of patients with the disorder. We describe the rapid detection of this m utation using the polymerase chain reaction and restriction endonuclea se digestion. The usefulness of this test for early diagnosis of hered itary haemochromatosis in asymptomatic family members is highlighted.