Diagnosis

Most regular medical check-ups do not include tests to measure the amount of iron in the body. For that reason, hemochromatosis is often not found in people who have the disease.

If you think you have symptoms like those of hemochromatosis, (tiredness, weakness, belly pain, or joint pain), or if you have a close relative (grandparent, mother, father, sibling, niece, nephew) who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.

Early detection of iron buildup is important because prompt diagnosis and treatment of hemochromatosis can help prevent the more serious problems caused by the disease.

To see if you might be at risk for hemochromatosis, a doctor will take a complete medical history and give you a physical exam. Having information about your family’s health history is also helpful.

To check the amount of iron in your body, a doctor can use two simple blood tests:

• Transferrin saturation (TS) test
• Serum ferritin (SF) test

If these tests show that you have too much iron in your body, you will need to start treatment.

Transferrin Saturation (TS) Test

Transferrin saturation (TS) test is a simple blood test.

You should not eat after midnight on the night before your blood is drawn for the transferrin saturation (TS) test.

Note that taking any of the following supplements or pills in the day before to your blood test can make TS values higher than normal:

• Multivitamins with iron
• Multivitamins or pills with vitamin C
• Medicinal iron

If you take any of these supplements or pills, you should not use them for 24 hours before blood is drawn for the TS test.

If, on an empty stomach, your TS value is greater than 45%, you should have another test done, called the serum ferritin test.

Serum Ferritin (SF) Test

Serum ferritin (SF) test is a simple blood test.

Interpreting the serum ferritin (SF) test:

Women

• For women who have not been through menopause, an SF greater more than 200 ng/mL (nanograms per milliliter) means there is too much iron in the body.

• For women who have been through menopause, an SF value greater than 300 ng/mL means there is too much iron in the body.

Men

• An SF value greater than 300 ng/mL means there is too much iron in the body.

These blood tests, a thorough medical history, and a physical examination may also help rule out other conditions that could be causing the symptoms.