Haemochromatosis: Automated detection of the two point mutations in the HFE gene: Cys282Tyr and His63Asp

Hereditary haemochromatosis (HH) is one of the most common inherited diseas es among Caucasians. Two mutations in the HFE gene have been implicated in HH: 80 to 90% of the patients with HH are homozygous for the point mutation CYS282Tyr, while the majority of the remaining patients displays either a compound heterozygosity for the mutation CVS282Tyr and the point mutation H IS63Asp, or are homozygous for HIS63Asp. Though the disease can be treated easily, symptoms are non-specific, and onset and severity are influenced by environmental factors, and therefore the disease can remain undetected unt il decades of iron overload lead to irreversible damage in a variety of org ans, which may result in their failure. In order to detect patients with HH , simple and cost-effective tests are needed. We have developed a rapid, au tomated, PCR-based test which makes use of a diagnostic restriction site in each of two amplified fragments. The test employs off-the-shelf chemistry and uses the automated detection process of an immunoassay analyzer that is available in many clinical laboratories, thus avoiding an additional inves tment in a more specialized PCR analyzer. Because of its low costs and easy handling, the assay is particularly suited for the routine clinical labora tories.