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Whether of primary or secondary origins, chronic iron overload represents a serious threat to patients' long-term health and well-being. Guidelines exist for the diagnosis and management of iron overload in its most common presentations: patients with hereditary hemochromatosis or transfusion-dependent anemias including sickle cell disease, myelodysplastic syndromes, or thalassemia major. Common to all these guidelines is the diagnostic and prognostic value of serum ferritin >1000 mcg/L, which is associated with serious clinical sequelae in both hereditary hemochromatosis (1) and transfusional iron overload (2-4).

When to begin treating patients with 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% (5). 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 (5).

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.

AASLD algorithm for the management of hereditary hemochromatosis

Algorithm for screening, diagnosis, and management proposed by the American Association for the Study of Liver Diseases (AASLD). Adapted with permission from Tavil (5).

When to begin treatment for transfused patients

Treatment should be started in patients with clinical evidence of iron overload due to blood transfusions when:

• Cumulative transfusions reach 120 mL of packed red blood cells per kg of body weight (or as few as 10 transfusions); (4,6,8) and
• Serum ferritin is consistently >1000 mcg/L (4,5).