Hemochromatosis (2 SNP) DNA Test

Hemochromatosis is the most common genetic disorder in individuals of European descent. Find out if you are at risk with this DNA test.

  • Identifies two of the most common mutations in the HFE gene
  • 1 in 9 individuals of European ancestry carry one HFE mutation
  • 1 in 200 individuals of European ancestry inherit two defective HFE genes and are at increased risk of hemochromatosis

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Detailed Description

Hereditary hemochromatosis is the most common genetic disorder in the western world. It’s a disease characterized by the absorption too much iron from the diet. This iron accumulates in organs and tissues, eventually causing organ damage and serious health complications.

While iron accumulates from a young age, the symptoms do not appear until later in life. On average, men develop symptoms between the ages of 30-50, compared to women who are diagnosed after 50, often 10-15 years after menopause.

If detected early, hemochromatosis is easily treated. When diagnosed late, after organ damage has occurred, the damage is irreversible.

This test detects the two most common HFE variants associated with hemochromatosis. If you wish, you can upgrade to the DNA Hemochromatosis Test which includes a third HFE variant.

The Genetics

This DNA test identifies specific changes in the HFE gene, which are associated with an increased risk of hemochromatosis. 

To be at an increased risk of hemochromatosis, two defective copies of the HFE gene need to be inherited. People who have one normal and one defective HFE gene are generally unaffected.

The most at-risk genotype is two copies of the C282Y variant (C282Y homozygote). This occurs in 80-85% of affected individuals. Two copies of the H63D variant may slightly increase the risk of hemochromatosis, but often no symptoms are observed. Compound heterozygotes have two defective HFE genes, but each copy carries a different variant. The C282Y/H63D compound heterozygote is associated with a milder form of hemochromatosis.

Early Symptoms of Hemochromatosis 

Hemochromatosis is hard to diagnose based on physical symptoms alone, because these symptoms are also seen in many 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
  • Low thyroid function

How It Works

Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.