[Hereditary haemochromatosis: recent developments in diagnostics].

Abstract

Hereditary haemochromatosis (HHC), a condition of abnormal iron absorption, is among the commonest diseases in humans. Early diagnosis is vital, because the disease is easily treated by phlebotomy to remove iron. Recently, mutations were identified in a HLA-class I-like gene, designated HFE and possibly associated with HHC. It was found that 83% of unselected HHC patients and more than 90% of patients with a clear family history of HHC, were homozygous for a single point mutation resulting in an amino acid substitution (Cysteine282Tyrosine) in the HFE protein. Although these data look compelling, they are not definitive proof that HFE is the haemochromatosis gene, but identification of these mutations will be of value in early diagnosis of haemochromatosis. However, the questions when to use the assay for detection of the Cys282Tyr mutation and how to interpret the results are not fully clear yet. Therefore, caution is still advocated when using molecular testing.