From the Guidelines
The patient does not require phlebotomy or chelation therapy at this time, given their low ferritin level of 39 ng/mL and mildly elevated iron saturation of 58%. The ferritin level is actually on the lower end of the normal range, which is unexpected in hemochromatosis where ferritin is typically elevated 1. The elevated transferrin saturation (>45%) is consistent with hemochromatosis, but without elevated ferritin, significant iron overload is unlikely. Some key points to consider in the management of this patient include:
- Genetic testing to confirm the diagnosis if not already done, particularly for HFE gene mutations (C282Y and H63D) 1
- Regular monitoring with ferritin and transferrin saturation measurements every 3-6 months
- Diet modifications, such as limiting alcohol, avoiding iron supplements, vitamin C with meals, and raw shellfish
- If the patient has been previously treated with phlebotomy, the current values may represent successful iron depletion 1. According to the most recent guidelines, treatment targets for phlebotomy are ferritin <50 µg/L during the induction phase and <100 µg/L during the maintenance phase 1. Given the patient's current ferritin level is below these targets, no immediate action is required, and the patient should be monitored regularly to prevent potential complications.
From the Research
Patient Profile
- Hemoglobin: normal
- Ferritin: 39
- Iron saturation: 58
Relevant Studies
- According to 2, ferritin values are not useful guides to the pace of phlebotomy in patients with hemochromatosis.
- The study 2 also suggests that transferrin saturation can fluctuate considerably during treatment, but maintaining it below 35% is desirable.
- Another study 3 presents a case where iron chelation with deferasirox was used to lower ferritin levels in patients with hemochromatosis and chronic anemia, who could not undergo phlebotomy.
- Study 4 evaluates patient compliance with phlebotomy therapy and finds that most patients achieve iron depletion, but compliance with maintenance therapy decreases over time.
- Deferasirox has been shown to be effective in reducing iron burden in patients with hereditary hemochromatosis, as demonstrated in studies 5 and 3.
- A review article 6 emphasizes the importance of timely diagnosis and management of hereditary haemochromatosis, and provides a practical algorithm for diagnosis and management.
Key Findings
- Ferritin levels may not be a reliable indicator of iron stores in patients with hemochromatosis 2.
- Iron chelation therapy, such as deferasirox, may be a viable alternative to phlebotomy in certain patients 3, 5.
- Patient compliance with phlebotomy therapy is crucial to achieving and maintaining iron depletion 4.
- Transferrin saturation should be maintained below 35% to prevent iron reaccumulation 2.