DNA Hemochromatosis Risk Test

Hereditary hemochromatosis stands as the most prevalent genetic disorder in the Western world, take this test to discover your genetic risk.

Characterized by an excessive absorption of iron from the diet, hemochromatosis can lead to the accumulation of iron in organs and tissues, resulting in organ damage and severe health complications.

Although iron begins to accumulate from an early age, symptoms typically manifest later in life. On average, men exhibit symptoms between the ages of 30 and 50, while women are often diagnosed after the age of 50, frequently 10-15 years post-menopause.

When identified early, hemochromatosis is easily manageable through treatment, involving regular blood removal every 2 to 4 months to eliminate excess iron. However, if diagnosis occurs at later stages, after organ damage has occurred, the resulting damages become irreversible.

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What’s inside your kit?

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The Hemochromatosis Home DNA Test examines three specific changes in the HFE gene to assess an individual’s susceptibility to developing hemochromatosis.

Hereditary hemochromatosis results from abnormalities in the HFE gene, with the HFE protein’s primary role being the regulation of dietary iron absorption. Mutations in the HFE gene lead to excessive iron absorption, and while this surplus iron cannot be naturally expelled, it can be safely removed through blood donation or phlebotomy. Early detection of hemochromatosis enables regular monitoring of iron levels and scheduled blood removal.

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Genes Analyzed

This genetic test identifies three specific mutations in the HFE gene associated with an elevated risk of hemochromatosis:

• C282Y
• H63D
• S65C

C282Y is the most prevalent mutation, linked to the most severe symptoms, while H63D and S65C are additional mutations that can heighten the risk of hemochromatosis. Often, other contributing factors (e.g., hepatitis or alcohol abuse) are necessary for iron overload to occur.

Understanding one’s genetic risk for hemochromatosis can prompt early monitoring and facilitate the initiation of drug treatment to slow down disease progression.

To be at an increased risk of hemochromatosis, one must inherit two faulty copies of the HFE gene. Carriers, possessing one normal and one defective HFE gene, typically remain unaffected.

Note: Although individuals inheriting two defective HFE genes are at an elevated risk of developing hemochromatosis, many may not display any disease symptoms. Additional modifying genes or other factors (e.g., alcohol abuse) are believed to contribute to the risk of hemochromatosis in genetically susceptible individuals.

Symptoms

Diagnosing hemochromatosis based on physical symptoms alone is challenging, as these manifestations overlap with those of various other health conditions. Early symptoms include fatigue and weakness, characteristic “Iron Fist” (knuckle pain), memory problems, depression, shortness of breath, heart flutters, high blood sugar, and low thyroid function.