HFE H63D RealFast™ Assay: Pioneering Hereditary Haemochromatosis Detection

Unlocking the Genetic Secrets of Iron Overload Disorders

Iron is an essential element for the human body, playing a crucial role in various physiological processes such as oxygen transport, DNA synthesis, and energy production. However, too much iron can be detrimental to our health, leading to a condition known as iron overload or hemochromatosis. Among the diverse spectrum of iron overload disorders, hereditary hemochromatosis (HH) stands out as the most common and well-studied type. ViennaLab Diagnostics GmbH, a leader in molecular diagnostics, presents the HFE H63D RealFast™ Assay, a groundbreaking tool for detecting the H63D mutation in the HFE (High Fe) gene, closely linked to hereditary hemochromatosis. In this comprehensive article, we will delve into the world of HH, explore the significance of the HFE H63D mutation, and discover how this innovative assay is transforming the landscape of genetic testing.

Understanding Hereditary Hemochromatosis

Before we dive into the specifics of the HFE H63D mutation and the RealFast™ Assay, let’s establish a foundational understanding of hereditary hemochromatosis. HH is a group of inherited iron overload disorders characterized by excessive absorption and accumulation of iron in various body tissues, particularly the liver, heart, and pancreas. This accumulation of iron can lead to a wide range of health issues, including liver cirrhosis, diabetes, heart problems, and joint pain.

The primary regulator of iron homeostasis in the body is hepcidin, a hormone produced by the liver. Hepcidin controls iron absorption in the small intestine and iron release from macrophages, thereby maintaining iron balance. In individuals with hereditary hemochromatosis, there is a relative deficiency of hepcidin, resulting in uncontrolled iron absorption and, consequently, iron overload.

Hereditary hemochromatosis is a genetically inherited disorder, and several genes have been associated with its development. Among these genes, mutations in the HFE gene are responsible for the most common form of HH, often referred to as HFE-HH. Approximately 80% of individuals with HH are homozygous for the C282Y mutation, while fewer individuals are compound heterozygous for both the C282Y and H63D mutations.

The HFE H63D Mutation: Unraveling the Genetic Puzzle

The HFE gene encodes a protein that plays a crucial role in regulating iron absorption in the body. Specifically, it controls the interaction between a protein called transferrin receptor 2 (TfR2) and hepcidin. Mutations in the HFE gene can disrupt this regulatory process, leading to increased iron absorption and eventual iron overload.

The HFE H63D mutation is a specific alteration in the HFE gene that involves a change from cytosine (C) to guanine (G) at position 63 (C63G). This single nucleotide change can have profound effects on iron metabolism. While the H63D mutation is less common than the C282Y mutation, it still holds significant clinical relevance, especially when it occurs in combination with other genetic or environmental factors.

The Clinical Implications of HFE H63D Mutation

Homozygous carriers of the HFE H63D mutation typically show only a slight increase in iron absorption and rarely develop hereditary hemochromatosis. However, the picture becomes more complex when additional risk factors are considered. Individuals with other genetic predispositions, such as the C282Y mutation, obesity, hypertension, type 2 diabetes, smoking, or the use of oral contraceptives, may be at an increased risk of developing iron overload when carrying the HFE H63D mutation. This highlights the importance of genetic testing for identifying individuals at risk and implementing preventive measures.

The Role of RealFast™ Assay in HH Diagnosis

The HFE H63D RealFast™ Assay developed by ViennaLab Diagnostics GmbH represents a breakthrough in the field of genetic diagnostics for hereditary hemochromatosis. This fast and accurate real-time PCR-based test is specifically designed to detect the H63D mutation in the HFE gene, enabling precise and reliable genotype discrimination. The assay can identify three possible HFE H63D genotypes in human DNA extracts: HH (normal), HD (heterozygous), or DD (homozygous mutant).