Management of Iron Overload

Diagnostic Approach

The American Association for the Study of Liver Diseases recommends that patients with iron overload undergo immediate diagnostic workup, including iron saturation and serum ferritin measurement, to guide diagnosis and treatment decisions 1, 2, 3
Iron saturation of 61% is markedly elevated and suggests either hereditary hemochromatosis or secondary iron overload, according to the American Journal of Hematology 1, 2
Serum ferritin measurement is critical and should be obtained immediately to guide diagnosis and treatment decisions, as stated by the American Journal of Hematology 1, 3
HFE genetic testing should be performed to evaluate for hereditary hemochromatosis, specifically C282Y homozygosity, which is the most common cause, according to the Journal of Hepatology 1
Liver MRI (T2*) should be obtained to quantify hepatic iron concentration and assess for organ damage, as recommended by the Journal of Hepatology and the American Journal of Hematology 1, 4
Cardiac MRI (T2*) is indicated if there are any signs of heart disease or if ferritin is markedly elevated, according to the Journal of Hepatology 1

The American Journal of Hematology recommends therapeutic phlebotomy as the first-line treatment for hereditary hemochromatosis, which should be initiated once the diagnosis is confirmed 1, 3
Iron chelation therapy is indicated if the patient has a history of chronic transfusions, with options including deferasirox, deferoxamine, or deferiprone, as stated by the American Journal of Hematology 3, 4, 5, 6
Deferasirox dosing should start at 14 mg/kg/day for transfusional iron overload, and continue chelation as long as transfusions are needed and iron overload remains clinically relevant, according to the American Journal of Hematology 5, 6

The Journal of Hepatology recommends monitoring for organ damage that may already be present, including liver function tests and assessment for cirrhosis (ultrasound or FibroScan) 1
Echocardiogram is indicated if any cardiac symptoms or significantly elevated ferritin, as stated by the Journal of Hepatology 1
Investigation of other causes of iron overload should be performed if genetic testing is negative for C282Y homozygosity, including chronic liver disease, hematologic disorders with ineffective erythropoiesis, and chronic transfusion history, according to the Journal of Hepatology and the American Journal of Hematology 1, 3, 4