Diagnosis of Hemochromatosis
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Diagnosis of Hemochromatosis

Detecting the presence of a defective HFE gene

Find out if you are at risk - get tested

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Hemochromatosis is caused by a defect in a gene called HFE which is responsible for regulating the absorption of dietary iron by the body. The defective HFE gene is found in families with a history of hereditary hemochromatosis. A simple DNA test from a cheek swab sample can confirm whether a person has the defective HFE gene and be at risk of developing hemochromatosis.

DNA Testing for Hemochromatosis

Genetic testing can be done quickly and easily using a buccal brush (cheek brush) that is included in the DNA test kit. The brush is rubbed gently inside the mouth against the cheek for 10 seconds to collect a DNA sample for testing. The sample is sent back to the laboratory using the return package provided in the kit and results are available within 7 to 14 days.

Diagnosis of Hemochromatosis After Symtoms Have Already Appeared

While DNA testing can confirm a diagnosis of hemochromatosis, other test types can be used to determine whether symptoms of the disease have already appeared, how far the disease has progressed, and what types of treatment are required.

1. Blood iron tests

There are several blood tests that can detect iron overload in the body:

Serum ferritin

A measure of the amount of iron stored in the body. Blood ferritin levels are usually high in patients with hemochromatosis. However, other factors may also cause elevated ferritin levels, including liver disease, infection, cancer, heart disease, AIDS, metabolic disorders, and inflammatory conditions such as arthritis.

Serum iron

A measure of the amount of iron in the blood in order to determine the amount of free or unbound iron in the body.

Total iron binding capacity (TIBC)

TIBC is a measure of the total amount of iron that can be carried in the blood by transferrin, a protein that carries iron from one part of the body to another. It is a measure how well your blood can transport iron.

Serum transferrin saturation

This test determines the percentage of the transferrin that is being used to transport iron. Transferrin saturation is calculated by dividing serum iron by TIBC. The transferrin saturation is between 20 and 45 percent in healthy individuals.

An elevated transferrin saturation percentage or serum ferritin level points to iron overload. Serum iron and transferrin saturation are abnormally high in patients who are affected by hereditary hemochromatosis.

2. Liver biopsy

Before the availability of genetic testing for hemochromatosis, liver biopsy was previously widely used to diagnose hemochromatosis. With the availability of DNA testing for hemochromatosis, liver biopsy is now rarely needed to make the diagnosis of hereditary hemochromatosis.

During the biopsy, a tiny piece of tissue is removed from the liver using a thin needle. The liver biopsy can determine the extent of liver damage and determine how much iron is being stored in the liver.

Patients with hemochromatosis who have a normal liver biopsy result can live a normal healthy life once treatment for hemochromatosis is initiated. However, if cirrhosis is already present as a result of hemochromatosis, it is too late to reverse the effects and longevity is decreased.

3. Other tests

  • Liver function tests, blood sugar levels to find out whether you have diabetes or liver disease.
  • Alpha-fetoprotein levels, a blood test that looks for higher levels of a protein that occurs with liver cancer.
  • Electrocardiogram (ECG) to look at the electrical activity of the heart.
  • CT scan, MRI, and ultrasound