Treatment
Treatment for juvenile hemochromatosis is similar to that for other forms of hemochromatosis and iron overload, and focuses on reducing the amount of iron in the body in order to prevent complications of iron overload. However, if the disease is not discovered early enough, or if progress is not well controlled, further treatments may be aimed at the symptoms of organ damage which may develop. Phlebotomy
Phlebotomy, the removal of blood from the body, is the main treatment for juvenile hemochromatosis. One unit of blood, the amount typically given during blood donation, is typically removed per session, and it is generally recommended that this be done once weekly until acceptable levels of iron are in the blood, which may take years. After these levels are reached, phlebotomy will be continued, but less often than once weekly, perhaps every few months. Chelation Therapy
In the event that phlebotomy is not an appropriate option or is not enough on its own to reduce iron levels, chelation medications, those that bind and remove certain metals from the blood, may be utilized. Examples of chelators specifically for iron include deferoxamine and deferasirox. Dietary Modification
It is recommended that those with juvenile hemochromatosis refrain from eating iron supplements, vitamin C supplements, and uncooked/undercooked seafood and shellfish, and reduce or eliminate consumption of alcoholic beverages and red meat. Additional Treatments
If the disease is advanced enough, further treatments can be aimed at the complications of the disease, depending on which are present:
Diabetes may be treated with oral medications and/or insulin as indicated.
Elevated serum ferritin, an indicator of blood iron levels, and transferrin saturation, which is involved with absorption of iron from the gut, are very common. Transferrin saturation may approach or reach 100%, where a normal value would lie between 16% and 45%. If transferrin saturation is normal, juvenile hemochromatosis can be ruled out. Serum ferritin may only be slightly elevated as the disease progresses, however may quickly reach in excess of 1000ng/mL. Genetic Testing
In patients suspected to have juvenile hemochromatosis, the diagnosis can be confirmed through genetic testing for specific genes:
A single gene study may be considered in those that demonstrate iron overload at a very young age, and specifically looks for mutations in either the HJV (HFE2) or HAMP genes. As HJV is more commonly associated with the disease, this may be checked first, and if no alterations are found, HAMP may be tested next. A multi-gene study may be considered to more effectively search for genetic causes of the patients symptoms, and can include HJV, HAMP, and other genes associated with similar conditions like HFE. Imaging
MRI may be utilized in order to assess the extent to which iron has been deposited in certain tissues and organs, however does not have significant weight in the diagnosis of the condition. Biopsy
Liver biopsy, or removal of a small piece of liver tissue for analysis, can be done to assess the extent of iron overload in the liver, however is considered not to have a significant weight in the diagnosis of the condition.