Hemochromatosis is a genetic disorder that causes excessive absorption and accumulation of iron in the body. This iron overload can lead to serious complications, such as liver damage, heart problems, joint issues, and damage to other organs. If detected early, hemochromatosis can be effectively treated to prevent long-term harm.
The genetic test for hemochromatosis examines specific mutations in genes involved in iron metabolism. Results are available approximately 3 weeks after the sample is received at the laboratory. The test is performed using an oral swab, eliminating the need for blood draws.
Hemochromatosis is most commonly associated with mutations in the HFE gene, which regulates iron absorption. The two most frequent mutations are:
Individuals with two copies of the C282Y mutation, or a combination of C282Y and H63D, are at an increased risk of developing hemochromatosis.
Identifying genetic mutations allows for early diagnosis before symptoms appear, preventing complications such as liver damage, heart disease, and diabetes. In families with a history of hemochromatosis, testing can determine whether an individual carries the mutation and help guide preventive measures for other family members.
Test results assist in shaping treatment strategies, such as regular phlebotomy (therapeutic blood removal) to lower iron levels in the blood. Additionally, the genetic test helps distinguish hemochromatosis from other conditions that may cause similar symptoms (e.g., fatigue, arthritis, or liver disorders).
If a predisposition is identified, you can work with your healthcare provider to implement preventive measures, such as monitoring iron levels and avoiding excessive consumption of iron-rich foods or supplements.
If a child inherits two copies of the C282Y mutation, they are at increased risk for developing hemochromatosis. Early detection in children enables timely monitoring and preventive measures from a young age.
