Hemochromatosis

What is Hemochromatosis?

Hemochromatosis is a genetic disorder that causes the body to absorb and store excess iron. This iron overload can lead to serious complications such as liver damage, heart disease, joint issues, and other organ problems. However, early detection allows for effective management, preventing long-term damage.

About the Test

The genetic test for hemochromatosis analyzes specific mutations in genes that regulate iron metabolism.

• Results are available within 3 weeks of receiving the sample.
• The test is performed using a saliva (buccal swab) sample, avoiding the need for blood collection.

Genes Involved

Hemochromatosis is most commonly associated with mutations in the HFE gene, which helps regulate iron absorption. The two most common mutations are:

• C282Y: The most frequent mutation responsible for hereditary hemochromatosis.
• H63D: Associated with milder forms of the condition or may contribute in combination with other mutations.

People who carry two copies of the C282Y mutation or one C282Y and one H63D mutation are at increased risk of developing hemochromatosis.

How Can the Test Help?

• Early diagnosis – Genetic testing can detect predisposition before symptoms appear, helping prevent complications such as liver disease, diabetes, and heart conditions.
• Family screening – If there is a family history of hemochromatosis, testing can identify carriers or at-risk relatives.
• Tailored treatment planning – Test results can guide treatment strategies, such as regular phlebotomy (blood removal) to lower iron levels.
• Differential diagnosis – Helps distinguish hemochromatosis from other conditions with similar symptoms, such as fatigue, arthritis, or liver disorders.
• Preventive lifestyle changes – Those with genetic predisposition can work with healthcare providers to monitor iron levels and avoid excessive dietary iron or supplements.

Genetic Testing in Children

If a child inherits two copies of the C282Y mutation, they are at increased risk of developing hemochromatosis. Early detection allows for preventive monitoring and interventions from a young age.