Algorithm for evaluating suspected iron overload

This is a general approach and should not substitute for the judgment of the treating clinician. It presumes the patient has already had a history, examination, and complete blood count (CBC). Refer to UpToDate for details of the evaluation. Other diagnostic approaches such as determining the response to a course of therapeutic phlebotomy may be appropriate in some settings. If iron overload is present, additional testing to determine the cause (eg, HFE genetic testing) is appropriate if the cause is not obvious (eg, transfusional iron overload or thalassemia).

HH: hereditary hemochromatosis; HIV: human immunodeficiency virus; MRI: magnetic resonance imaging; RBC: red blood cell; TIBC: total iron-binding capacity; TSAT: transferrin saturation (serum iron ÷ TIBC × 100).

* Ideally 2 measurements are performed when the patient is not acutely ill, especially if results are borderline.

¶ The threshold for ferritin and TSAT above which to pursue additional testing depends on the patient's age, family history, medical history, and number of transfusions received.

Δ Findings of a very high ferritin and TSAT may be sufficient to diagnose iron overload in some individuals (eg, known HFE mutation, multiple transfusions). However, quantitation of iron stores remains useful for decisions about when to start and stop therapy and the urgency of intervening.

◊ MRI is increasingly accepted as the best test. However, liver biopsy may be preferable in some settings (eg, increased hepatic enzymes). Liver MRI may be done in combination with cardiac MRI in some institutions. Cardiac MRI is important in many cases, especially those associated with ineffective erythropoiesis and transfusional iron overload, because hepatic and cardiac iron deposition may not be uniform.

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Algorithm for evaluating suspected iron overload