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Hereditary haemochromatosis (HH) stands as one of the most prevalent genetic disorders in Northern European communities. Characterized by excessive absorption and subsequent deposition of iron in different organs, the condition poses substantial health risks. Early diagnosis is essential for the management of HH, allowing for effective treatments that can yield a virtually normal life for the affected individuals. In this light, Haemochromatosis StripAssay® A by ViennaLab represents a cornerstone in the efficient diagnosis and treatment of HH.
The root cause of HH lies in mutations in genes like HFE, TFR2, or FPN1, which play significant roles in iron metabolism. The mutated genes can cause iron accumulation in vital organs like the liver, heart, and pancreas. The condition may lead to severe complications such as liver cirrhosis, diabetes, arthritis, or cardiomyopathies, and if left untreated, may result in premature death. Early diagnosis, therefore, is critical for effective therapy.
The Haemochromatosis StripAssay® A enables easy testing for HH. Utilizing established innovations in diagnostics, the assay covers 12 mutations in the HFE gene, 4 mutations in the TFR2 gene, and 2 mutations in the FPN1 gene. It employs reverse-hybridization of biotinylated PCR products and combines probes for variants and controls in a parallel array of allele-specific oligonucleotides. The results of the test are easily visible to the naked eye, thanks to enzymatic color reactions.
The kit comes with all the essential components for efficient testing, including lysis solution, GENXTRACTTM Resin, amplification mix, and other necessary items. The test is specifically designed for human in vitro diagnostics and follows a three-step procedure:
The detection is done using streptavidin-alkaline phosphatase and color substrates.
In the battle against hereditary haemochromatosis, early diagnosis is the linchpin for successful treatment. Haemochromatosis StripAssay® A provides an easy, effective, and reliable method for identifying the most common genetic variants causing iron overload. This empowers clinicians to make informed decisions and enables patients to receive timely treatment, drastically reducing the risk of complications. As a result, ViennaLab’s Haemochromatosis StripAssay® A is nothing short of a lifesaver in the world of medical diagnostics for iron overload disorders.