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Diagnostic Testing
Summary
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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.
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.
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