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Once a diagnosis of hereditary hemochromatosis has been established, the accepted first-line standard treatment is therapeutic phlebotomy (removal of blood from the body) to reduce the levels of excess iron. This is the easiest and most effective way to remove excess iron. If therapeutic phlebotomy is initiated early in the course of hereditary hemochromatosis, the patient may expect a normal life expectancy and good treatment outcome. If there is already evidence of tissue or organ damage, phlebotomy can halt the progression of further organ damage and its associated complications. If organ complications are already present, phlebotomy may reduce the severity of the symptoms and increase life expectancy.

The initiation of therapeutic phlebotomy for treatment of hereditary hemochromatosis typically improves various symptoms, including:

• Weakness or fatigue
• Hepatomegaly
• Improvement of liver function
• Improved skin pigmentation

Several categories of symptoms, however, may show limited or no improvement even following treatment with phlebotomy, such as those relating to diabetes, hypogonadism, hypothyroidism, cardiomyopathy, and joint pain.

Treatment of patients with hereditary hemochromatosis with therapeutic phlebotomy is divided into the following two phases:

• Iron reduction phase
• Maintenance phase

Iron Reduction Phase

The goal of this initial phase of treatment is to remove the excess iron from the body and return the iron to acceptable levels. The intention of this intensive phase of treatment is to induce a mild, temporary anemia in order to steadily reduce iron stores. Typically, therapeutic phlebotomy, also called venesection, involves removing one or two units of blood (approximately 450 to 500 milliliters per unit ; corresponding to about 250 mg of iron and 30 ng/mL of ferritin) once a week until serum ferritin levels have returned to normal (less than 50 ng/mL). The duration of treatment is usually anywhere from 3 months to a year or longer to achieve sufficient iron depletion. The U.S. Centers for Disease Control and Prevention (CDC) suggests that phlebotomy should continue until the serum ferritin concentration is less than 50 ng/mL and fasting serum transferrin saturation is less than 50%. The American Hemochromatosis Society recommends continuing phlebotomy until serum ferritin levels are 20 ng/mL or less. The amount of blood that is removed and the frequency of phlebotomy may vary according to body habitus, age, or pre-existing illness.

Serum ferritin level is the most reliable and inexpensive way to monitor the progress of therapeutic phlebotomy. Closely monitoring levels of iron storage is very important in order to prevent treatment from becoming too aggressive and inducing severe anemia. The CDC recommends that for patients who had ferritin levels about 1000 ng/mL before treatment, serum ferritin levels should be measured every 4-8 weeks during the initial stage of treatment. However, the CDC also recommends that serum ferritin levels should be measured more often for patients who have mild or moderate iron overload at the time of diagnosis to ensure that their iron levels do not dip too low and lead to anemia. There are varying opinions regarding whether hemoglobin levels (to measure the level of oxygen in the blood) should be checked at each visit or every 4-6 weeks. The hematocrit (percentage of red blood cells in the blood) is also usually measured before each phlebotomy.

Maintenance Phase