Hereditary hemochromatosis is only treated if the patient has iron overload, or an excess of iron stores. Not all patients will develop levels high enough to require treatment however; periodic testing of serum is required to monitor iron levels (Adams 2010). Levels of ferritin >1000μg/L are considered to be indicative of iron overload and signal that iron reduction therapy is required (Adams 2010).
Therapeutic phlebotomy is the primary means of reducing iron stores in hereditary hemochromatosis (Bacon 2011). Standard treatment consists of removal of one half liter of blood, which contains 200-250mg of iron one to two times per week. (Bacon 2011). Once levels of ferritin decrease to 50-100μg/L, the frequency of phlebotomies may be decreased (Adams 2010). Each patient is unique in his or her need for maintenance phlebotomy, ranging from once a month to once a year, following normalization of iron stores (Bacon 2011). Benefits to the patients include decreased cirrhosis, reduction of skin pigmentation and reported resolution of fatigue and arthritis symptoms (Adams 2010). Side effects from treatment can include hypervolemia (low blood volume) following treatment; fatigue and it can cause an increase in iron absorption (Adams 2010). Additionally hemocrit and hemoglobin measurements must be performed prior to phlebotomy (Adams 2010)
Therapeutic erythrocytapheresis (TE) is a more involved process that involves apheresis, or separation and removal of erythrocytes (red blood cells) while allowing the remaining white blood cells, plasma and small molecules to return into circulation (Rombout-Sestrienkova 2016). This mitigates hypovolemic symptoms and intolerance seen in phlebotomy (Rombout-Sestrienkova 2016). A larger amount of iron is removed per session and it takes a shorter period of time to complete treatment and has a higher amount of patient satisfaction (Rombout-Sestrienkova 2016).
Chelators are infrequently used for hereditary hemochromatosis due to side effects and liver toxicity (Adams 2010). However, they are used for patients who are unable to tolerate phlebotomy or erythrocytapheresis (Adams 2010). Commonly, Deferoxamine (DFO), which is injected, is used and showed similar resolution of iron stores compared to phlebotomy. DFO binds free irons stores through its carbonyl oxygen, which form interactions with free iron and is excreted through urine (Adams 2010). Another chelating agent Desferasirox (DFX) is administered orally but has not been studied as much in the case of hemochromatosis as DFO. DFX binds iron with a two to one ratio using aromatic oxygen’s to form interactions with iron, excretion occurs through stool (Adams 2010).
In addition to reducing iron levels patients may also receive treatment for resulting conditions such as diabetes and arthritis (Bacon 2011). Patients are advised to limit alcohol usage as it can accelerate progression of cirrhosis (Bacon 2011). Patients are also advised to avoid supplemental vitamin C as it can increase iron absorption (Bacon 2011). While dietary modifications have been investigated they can only mitigate 2-4mg of iron per day, which is insignificant compared to the amount removed through phlebotomy (Bacon 2011).