Management of Hemochromatosis

Diagnosis and Assessment

The American Association for the Study of Liver Diseases recommends obtaining serum ferritin level to quantify iron burden and establish baseline 1, 3
The European Association for the Study of the Liver suggests assessing liver function tests (ALT, AST, bilirubin) to evaluate hepatic involvement and establish baseline 1, 3
Renal function assessment, including serum creatinine, eGFR, urinalysis, and serum electrolytes, is necessary to evaluate renal tubular function 1, 3
A complete blood count is required to ensure adequate hemoglobin for phlebotomy, with a minimum level of 12 g/dL 4, 3

The American College of Gastroenterology recommends initiating weekly therapeutic phlebotomy immediately as first-line treatment to achieve iron depletion 1, 2, 5
The goal is to remove 450-500 mL of blood weekly, with a target serum ferritin of 50 μg/L during the induction phase 1, 2, 3
Hemoglobin and hematocrit should be checked before each phlebotomy session to avoid a decrease of more than 20% from baseline 2, 3

The American Association for the Study of Liver Diseases suggests continuing lifelong phlebotomy at a reduced frequency to maintain serum ferritin between 50-100 μg/L 1, 2, 5
The typical maintenance frequency is every 2-6 times per year, individualized based on iron reaccumulation rate 2, 5
Serum ferritin and transferrin saturation should be monitored every 6 months during the maintenance phase 2, 3

The European Association for the Study of the Liver recommends avoiding iron supplements and iron-fortified foods entirely 1, 4, 5
Supplemental vitamin C should be avoided, especially before iron depletion, as it accelerates iron mobilization and increases oxidative stress 1, 4, 3
Red meat consumption should be limited, and alcohol intake should be restricted during the iron depletion phase 1, 4, 5

Patients with cirrhosis require lifelong hepatocellular carcinoma (HCC) screening, which accounts for approximately 30% of hemochromatosis-related deaths 5
Advanced fibrosis risk is modified by alcohol consumption, type 2 diabetes, and viral hepatitis 1
Monitoring for overchelation is necessary, and phlebotomy frequency should be adjusted to keep ferritin in the target range of 50-100 μg/L 1, 2