ヘモクロマトーシス

Clinical information

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

Diagnostics

The EUROArray Haemochromatosis (2 SNP+) Direct is specifically optimised for the reliable determination of C282Y and H63D, the two most frequent haemochromatosis-associated mutations in the HFE gene. More comprehensive diagnostics, also taking into account rarer mutations, are enabled by the EUROArray Haemochromatosis (4 SNP+) Direct test system, which encompasses the analysis of the mutations C282Y, H63D, S65C and E168X. Both analyses are extremely easy to perform. 

The direct method allows direct use of whole blood samples and eliminates the need for time- and cost-intensive DNA isolation. The EUROArray Haemochromatosis (4 SNP+ or 2 SNP+) Direct ensures maximum result reliability, even for rare genotypes. For this purpose, the test system contains unique controls that show if further known 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.