HFE gene (haemochromatosis)

Clinical information

Hereditary haemochromatosis is the most frequent autosomal recessive disorder of metabolism and is based on an increased iron absorption in the upper small intestine. In untreated patients, it may cause irreversible damage with risk of cardiomyopathy, arthropathy, and liver and pancreas carcinoma. Two mutations in the HFE gene (C282Y and H63D) which may lead to a loss or a reduction of the physiological function of the Hfe protein are directly related with the disease.

Diagnostics

The EUROArray Haemachromatosis (2 SNP+) Direct is specifically optimised for the reliable determination of the two most frequent mutations in the HFE gene associated with haemachromatosis; C282Y and H63D. Comprehensive diagnostics, taking into account rare mutations are enabled by the EUROArray Haemachromatosis (4 SNP+) Direct test system, which encompasses the analysis of C282Y, H63D, S65C and E168X. Both analyses are extremely easy to perform.

The direct method enables the direct use of whole blood samples and eliminates the need for time and cost-intensive DNA isolation. With the EUROArray Haemachromatosis (4 SNP+ or 2 SNP+) Direct, highest reliability of results is ensured also for rare genotypes. For this cause, the test system contains unique controls that show, if further mutations are detected in the DNA in direct vicinity to the sequence variants investigated, which may interfere with the binding to the probes and thus affect the determination.