DNA Hemochromatosis Test
Are you of European ancestry?
Maybe you have descended from the Vikings?
People of Viking ancestry are more likely to carry HFE mutations that increase the risk of hereditary hemochromatosis. Find out if you are at risk with this DNA test.
- Identifies the most common mutations in the HFE gene
- 1 in 9 people of European ancestry carry one HFE mutation
- 1 in 200 inherit two defective copies and are at higher risk of hemochromatosis
The majority of alcohol, or ethanol, that enters the body is metabolized through a two-step process involving two enzymes.
During the first step of alcohol metabolism, alcohol dehydrogenase (ADH) converts ethanol to acetaldehyde, which is a toxic substance. However, this toxic compound is usually short-lived because it is rapidly converted to acetate by aldehyde dehydrogenase (ALDH) in the second step of alcohol metabolism. The end product, acetate, can be easily broken down into carbon dioxide and water.
People with genetic variations in the alcohol metabolism pathway may either produce acetaldehyde too quickly or have difficulty eliminating it rapidly enough. This can lead to a dangerous buildup of acetaldehyde in the body, even when moderate amounts of alcohol are consumed.
A simple mouth swab can determine whether you have inherited DNA changes that may affect your ability to metabolize alcohol, potentially increasing your risk of serious health complications.
This DNA test detects three specific changes in the HFE gene that are linked to a higher risk of hemochromatosis.
- C282Y – the most common mutation associated with the most severe symptoms of hemochromatosis
- H63D – a mutation that can increase the risk of hemochromatosis
- S65C – another mutation that can increase the risk of hemochromatosis
While the C282Y mutation is the most frequent and linked to the most severe symptoms of hemochromatosis, both H63D and S65C mutations can also raise the risk of the condition. It’s worth noting that other precipitating factors, such as hepatitis or alcohol abuse, are often 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
HOW IT WORKS
Step 1: Order test kit online
Step 2: Collect DNA sample using a painless mouth swab, and mail to the lab in the provided return envelope
Step 3: Receive your results online