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American Association for the Study of Liver Diseases (AASLD) guidelines for the diagnosis and management of hereditary hemochromatosis state that "all patients with HH who have evidence of iron overload should be strongly encouraged to undergo regular phlebotomies until iron stores are depleted" (1).

AASLD algorithm for the management of hereditary hemochromatosis Algorithm for screening, diagnosis, and management proposed by AASLD. Adapted with permission from Tavil (1).

When to treat iron overload in HH

The diagnosis of iron overload may be suspected based on elevated serum ferritin (>200 mcg/L in premenopausal women, and >300 mcg/L in men and postmenopausal women) combined with fasting transferrin saturation >45% (1). The diagnosis may be confirmed as follows:

• Patients who are heterozygous for the HFE mutation require a confirming liver biopsy.
• Patients who are homozygous for the HFE mutation may be diagnosed with iron overload if they have serum ferritin >1000 mcg/L, are aged ≥40 years, or have elevated ALT/AST levels.
• When combined with serum transferrin saturation (fasting value >50% in women, and >60% in men) liver biopsy may not be necessary to diagnose iron overload (1).

In confirmed HH, serum ferritin >1000 mcg/L is an accurate predictor of the degree of hepatic fibrosis (cirrhosis) (2).

Treating iron overload in HH

Given that most patients with hereditary hemochromatosis have unimpaired erythropoiesis, the simplest method of removing excess iron in most of these patients is phlebotomy. This oldest of medical treatments is effective in improving survival if it is given before cirrhosis develops (3).

AASLD guidelines for the treatment of iron overload in HH recommend (1):

• Weekly or biweekly phlebotomies of approximately 500 mL of blood (removing about 500 mg of iron).
• Monitoring serum ferritin every 10-12 phlebotomies.
• Stopping frequent phlebotomies when serum ferritin levels fall to <50 mcg/L.
• Continuing phlebotomies at intervals to maintain serum ferritin levels between 25 mcg/L and 50 mcg/L.

View the guidelines on the AASLD website