The body has no active way to excrete surplus iron, so treatment has to remove it. The mainstay is therapeutic phlebotomy, the withdrawal of blood, which carries away the iron held in hemoglobin.
Phlebotomy
One unit of blood, about 500 ml, contains roughly 200–250 mg of iron, depending on the hemoglobin concentration. Patients with hemochromatosis may carry more than 30 g of excess iron, so the induction phase is long: one or two phlebotomies a week, as tolerated, for up to two or three years. Hemoglobin or hematocrit is checked before each procedure and should not be allowed to fall by more than 20% of the starting value, and serum ferritin is measured after every 10 to 12 phlebotomies during induction.
The aim is a normal iron store, not iron deficiency. The EASL guideline sets the target ferritin below 50 µg/L during induction and below 100 µg/L during maintenance; the older AASLD guideline aims for a ferritin of 50–100 µg/L throughout. Once the target is reached, treatment continues as maintenance phlebotomy, usually every few months, to keep ferritin in that range. Patients reaccumulate iron at different rates, so the maintenance interval is set individually.
Chelation and daily measures
When phlebotomy cannot be used — for example in a patient with anemia, or when the iron overload comes from repeated transfusions rather than from increased absorption — iron-chelating drugs remove iron instead. Chelators such as deferoxamine, deferasirox and deferiprone bind iron so that it can be excreted, but they are less effective than phlebotomy.
Dietary iron restriction is unnecessary, because diet supplies only about 2–4 mg of iron a day, far less than the roughly 250 mg removed in a week of phlebotomy. Two things are avoided: iron supplements and vitamin C supplements, because vitamin C increases iron absorption and can mobilize iron into a free, more damaging form. People with hemochromatosis should also avoid eating raw shellfish, because they are at risk of severe Vibrio vulnificus infection.
Complications and prevention
Phlebotomy begun before cirrhosis or diabetes develops prevents most of the complications of iron overload and greatly improves survival. Some features improve as iron is removed — fatigue, skin pigmentation, abdominal pain, liver enzymes and diabetic control — and hepatic fibrosis can regress. Others do not: established cirrhosis, arthropathy and testicular atrophy generally persist. Because cirrhosis keeps the risk of hepatocellular carcinoma even after adequate phlebotomy, patients with cirrhosis or advanced fibrosis need regular surveillance for it.
The point of finding the disease early is prevention. First-degree relatives of an affected person should have iron studies and HFE genotyping, and those with the same genotype and evidence of iron overload can start treatment before organ damage. Screening the general population is not recommended, because most people homozygous for C282Y never develop serious disease.