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Summary

Biochemical Testing
  • 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).
Testing Protocol
  • 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.

Test Your Knowledge

This is an optional self-quiz and is not required for continuing education credit.

Select the best answers below. If you need help, feel free to go back to Biochemical Testing or Testing Protocol and review.

Question 1: Biochemical testing for iron overload is recommended for
Select the best answer(s) below:
Patients with vague, unexplained nonspecific symptoms of hemochromatosis.
Patients with hepatitis.
Family members (blood relatives) of patients diagnosed with iron overload

Question 2: Fasting serum iron levels and ________ are used together as a marker of transferrin saturation (TS).
Serum ferritin.
Iron-binding capacity (TIBC or UIBC).
Transaminase.
Question 3: The diagnostic test of choice to confirm hemochromatosis is _________.
Liver biopsy.
HFE genotyping.
Quantitative phlebotomy.
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