Training & Education - Diagnostic TestingSummary
- Biochemical testing for iron status is recommended for patients with:
- Symptoms or signs suggestive of hemochromatosis.
- Porphyria, hepatitis or other liver diseases.
- Abnormal blood tests consistent with hemochromatosis.
- Evaluation for other causes of these medical problems should also be performed.
- Testing is also recommended for family members (blood relatives) of diagnosed patients.
- Recommended laboratory iron tests for the workup of a patient you suspect may have hemochromatosis are:
- Fasting transferrin saturation test (TS).
- Serum ferritin test (SF).
- Transferrin saturation (TS).
- Fasting values>45% should be followed by a serum ferritin test and additional workup.
- Serum ferritin (SF).
- Values >200 ng/mL for premenopausal females OR >300 ng/mL for postmenopausal females and males indicate iron overload; phlebotomy treatment is warranted in the absence of other causes.
- SF values can be elevated with liver disease, inflammation, and neoplasm.
- Confirmation of iron overload is typically required:
- Most health care providers consider quantitative phlebotomy the confirmatory test of choice.
- Genotyping for HFE mutations can provide additional confirmatory evidence that a patient has hereditary hemochromatosis.
- Many authorities once considered liver biopsy an essential diagnostic test, but it is now used more often as a prognostic, rather than a diagnostic test.
This is an optional self-quiz and is not required for continuing education credit.
- Centers for Disease Control and Prevention
National Center on Birth Defects and Developmental Disabilities
Division of Blood Disorders
1600 Clifton Road
Atlanta, GA 30333
TTY: (888) 232-6348
- Contact CDC-INFO