HAEMOCHROMATOSIS (HFE) - MUTATION ANALYSIS
(Flat ₹1801 OFF - Sanovra Lab)
Report Time: Next Day Evening | Sample: Blood (EDTA Whole Blood) | Days: Except Sunday
Hereditary Haemochromatosis is a genetic disorder where the body absorbs too much iron from food. Unlike normal bodies that stop absorbing iron when they have enough, patients with this mutation keep storing it. This excess iron eventually becomes toxic, damaging the Liver (Cirrhosis), Heart, and Pancreas (Diabetes).
The HFE Mutation Analysis is the definitive genetic test to diagnose this condition by detecting specific mutations (C282Y, H63D, and S65C) in your DNA. Early diagnosis prevents irreversible organ damage.
The Iron Overload Danger
Iron is essential for blood, but it is a heavy metal. Excess iron acts like rust inside the body. It generates free radicals that destroy cells.
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✔Liver: The primary storage site. Excess iron causes scarring (Cirrhosis) and increases cancer risk.
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✔Pancreas: Iron damages insulin-producing cells, leading to Bronze Diabetes (skin darkening + diabetes).
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✔Joints: Iron crystals deposit in joints, causing severe arthritis.
Who Should Take This Test?
This genetic test is recommended for:
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➤Patients with persistently high Ferritin levels or high Transferrin Saturation (>45%).
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➤Individuals with unexplained liver disease or family history of Haemochromatosis.
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➤Siblings of a diagnosed patient (to check if they are carriers or affected).
Understanding the Mutations: C282Y & H63D
The HFE gene controls iron absorption. There are two main mutations we look for:
| Mutation Profile | Risk Level | Interpretation |
|---|---|---|
| C282Y Homozygous (Two copies of the mutation) |
High Risk | Diagnostic. Most likely to develop severe iron overload. Regular monitoring and treatment are needed. |
| C282Y / H63D Compound Heterozygous (One of each) |
Moderate Risk | May develop mild to moderate iron overload. Needs monitoring of Ferritin levels. |
| H63D Homozygous (Two copies of H63D) |
Low Risk | Rarely leads to significant clinical disease unless combined with other factors (like alcohol use). |
| Carrier (Heterozygous) | No Risk | You carry one gene but usually do not get the disease. You can pass it to children. |
Frequently Asked Questions (FAQs)
Yes. Since it is a genetic test (DNA analysis), your result will never change. You only need to take this test once in your life to confirm the diagnosis.
Yes. Iron supplements affect your blood iron levels (Ferritin), but they cannot change your genes. This test looks at your DNA, so medication does not interfere.
At Sanovra Lab, we use advanced PCR technology to provide rapid genetic results by the Next Day Evening (excluding Sundays).
Detect It Before It Damages
Genetic confirmation is key to managing iron overload. Book the HFE Mutation Analysis at Sanovra Lab.
Disclaimer: The information provided here is for educational purposes only and does not constitute medical advice. Genetic results should always be interpreted by a qualified Hematologist or Genetic Counselor.