Hereditary hemochromatosis is the most common genetic disorder in the western world. It’s a disease characterized by absorbing 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. Treatment includes blood removal every 2 – 4 months to remove excess iron. If a diagnosis is made at later stages after organ damage has occurred, the damages are irreversible.
This DNA test identifies three specific changes in the HFE gene that are associated with an increased risk of hemochromatosis.
C282Y is the most common mutation, and is associated with the most severe symptoms. H63D and S65C are two other mutations that can increase the risk of hemochromatosis. However, often other precipitating factors (e.g. hepatitis or alcohol abuse) are also required before iron overload occurs.
Likelihood of symptoms:
To be at an increased risk of hemochromatosis, two defective copies of the HFE gene need to be inherited. Carriers, who have one normal and one defective HFE gene, are generally unaffected.
Although individuals who inherit two defective HFE genes are at increased risk of developing hemochromatosis, many will not show any disease symptoms. Additional modifying genes or other factors (e.g. alcohol abuse) are thought to contribute to the risk of hemochromatosis in genetically susceptible individuals.
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
- Shortness of breath
- Heart flutters
- High blood sugar
- Low thyroid function
Duchini A, Klachko DM, Sfeir HE (2014). Hemochromatosis.
Hemochromatosis.org. Provided by Iron Disorders Institute.
Hemochromatosis. National Heart, Lung, and Blood Institute. National Institutes of Health.
Beutler E et al. (2001). Genetics of Iron Storage and Hemochromatosis. Drug Metab Dispos. 29(4): 495-499.
Ajioka RS & Kushner JP (2003). Clinical consequences of iron overload in hemochromatosis homozygotes. Blood. 101(9): 3351-3353.