The Crucial Role of Haemochromatosis StripAssay® A in the Diagnosis of Hereditary Haemochromatosis

Introduction

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 Genetic Factors

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.

Haemochromatosis StripAssay® A: The Game Changer

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.

Technical Specifics

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:

1. DNA Isolation: The initial step involves the isolation of DNA samples.
2. PCR Amplification: Amplification of the DNA is done using biotinylated primers.
3. Hybridization: The amplification products are hybridized to a test strip containing allele-specific oligonucleotide probes immobilized as an array of parallel lines.

The detection is done using streptavidin-alkaline phosphatase and color substrates.

Why It’s a Game Changer

• Early Detection: The StripAssay® A allows for the identification of the most frequent genetic mutations contributing to HH. This enables healthcare providers to initiate therapy before irreversible damage occurs.
• Efficient Therapy: By identifying the underlying genetic mutations, healthcare providers can employ the most effective treatment plans, most commonly therapeutic bleeding.
• Quality of Life: Early diagnosis and treatment can significantly improve the quality of life for individuals affected by HH.
• Highly Comprehensive: The assay is comprehensive, covering a wide range of mutations in key genes responsible for iron metabolism.

Conclusion

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.