Initial Treatment Recommendations for Hemochromatosis

Phlebotomy Protocol

The American Association for the Study of Liver Diseases recommends therapeutic phlebotomy as the first-line treatment for patients with hemochromatosis and iron overload, which should be performed weekly until iron stores are depleted to a target ferritin level of 50 μg/L 1, 2
Remove one unit of blood (450-500 mL) weekly or biweekly, checking hemoglobin/hematocrit prior to each phlebotomy, and do not allow hemoglobin to fall by more than 20% of prior level 1
If hemoglobin <12 g/dL, reduce frequency; if <11 g/dL, pause treatment, and monitor serum ferritin every 10-12 phlebotomies 1, 2
After ferritin reaches 200 μg/L, check ferritin every 1-2 treatment sessions, and continue until serum ferritin reaches 50 μg/L 1, 2

Continue phlebotomy at less frequent intervals (typically 2-6 times per year) to maintain serum ferritin between 50-100 μg/L 1, 2, 3
Check ferritin and transferrin saturation every 6 months, and lifelong follow-up is required 2

Erythrocytapheresis can be considered as an alternative to phlebotomy, with advantages including fewer procedures and shorter treatment duration, and may be more cost-effective in the induction phase 2, 3
Iron chelation therapy is a second-line treatment when phlebotomy is not possible, with oral deferasirox being the most studied option, but should not be used in patients with advanced liver disease 2, 4, 5

Dietary modifications should not substitute for iron removal therapy, and patients should avoid iron and vitamin C supplements, limit red meat consumption, and restrict alcohol intake 1, 2
Patients with cirrhosis should abstain from alcohol completely, and avoid raw/undercooked seafood due to risk of Vibrio vulnificus infection, and avoid contact of wounds with seawater 1, 2

In patients with advanced cirrhosis, iron removal does not reverse the condition, and patients with decompensated liver disease may require liver transplantation 1
Proton pump inhibitors can reduce phlebotomy requirements, and C282Y homozygotes with elevated ferritin (<1000 μg/L) without liver disease indicators can proceed directly to phlebotomy without liver biopsy 1, 2

Phlebotomy therapy has been demonstrated to improve survival in clinical and cohort studies 3