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Iron Overload and Hemochromatosis: Detection and Diagnosis

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

If you think you have symptoms like those of hemochromatosis, (fatigue, weakness, abdominal pain and/or joint pain), or if you have a close relative 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 examination. 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 phlebotomy (pronounced “fle-bot-o-me”) treatment.


Transferrin Saturation (TS) Test

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

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

Note that taking any of the following supplements or pills in the day prior to your blood draw 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.


Serum Ferritin (SF) Test

For information about interpreting the serum ferritin (SF) test, see the following table.

For women • If you have not been through menopause, an SF greater more than 200 ng/mL (nanograms per milliliter) means there is too much iron in your body.
• If you have been through menopause, an SF value greater than 300 ng/mL means there is too much iron in your body.
For men • An SF value greater than 300 ng/mL means there is too much iron in your 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.
 
 

Key Point
If you think you have symptoms like those of hemochromatosis or if you have a close blood relative who has hemochromatosis, you should ask your health care provider to check the amount of iron in your blood.

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Hemochromatosis: What Every Clinician and Health Care Professional Needs to Know
Hemochromatosis: What Every Clinician and
Health Care Professional Needs to Know

Cover of Iron Overload and Hemocromatosis Brochure:  Information for Patients and Their Families
Iron overload and Hemochromatosis
Information for Patients and Family

 
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Contact Info

Thank you for visiting the CDC-NCBDDD Web site. Click here to contact the National Center on Birth Defects and Developmental Disabilities

We are not able to answer personal medical questions. Please see your health care provider concerning appropriate care, treatment, or other medical advice.
 

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Date last reviewed: 11/01/2007
Content source: Division of Hereditary Blood Disorders, National Center on Birth Defects and Developmental Disabilities
  
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