Hemochromatosis is a disease in which too much iron builds up in your body. Primary hemochromatosis, also called hereditary hemochromatosis (HHC), is an inherited disease in which your body absorbs extra iron and cannot get rid of it. Secondary hemochromatosis, commonly known as secondary iron overload, may develop after repeated red blood cell transfusions or as a complication of certain inherited or acquired anemias.
At Seattle Cancer Care Alliance (SCCA), our team of experts provides comprehensive diagnostic and medical care, along with ongoing monitoring and support, for people with HHC or secondary iron overload.
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What is hemochromatosis?
Your body needs iron to make red bloods cells. Iron is a critical component of hemoglobin, the molecule in red bloods cells that carries oxygen to your tissues. Iron is also involved in enzymes that help convert blood sugars into energy within your cells, particularly muscle cells. It plays a vital role in producing new cells and recovering from illness.
In HHC, a genetic defect causes your body to absorb more iron from food than you need — many times more. The excess is stored in your body, especially in your liver. Your heart, pancreas, joints, skin and endocrine glands can also store extra iron.
Secondary iron overload usually develops along with or as a complication of the following disorders, especially when they require frequent red blood cell transfusions:
- Severe aplastic anemia
- Myelodysplastic syndromes
- Moderate to severe thalassemia
- Sickle cell disease
- Chronic inherited bone marrow failure syndromes
- Chronic acquired bone marrow disorders
If iron overload rises to toxic levels, it causes organ damage. Iron overload may make you susceptible to conditions like cirrhosis, heart arrhythmia, heart attack, diabetes, bone and joint abnormalities and hormone deficiencies or even cause organs to fail.
Symptoms and diagnosis of hemochromatosis
HHC does not always cause signs, symptoms or serious problems. Even so, it’s important to diagnose the condition early so doctors can monitor any effects that develop and prevent or manage organ damage.
Joint pain and chronic fatigue are the most common symptoms of hemochromatosis. Other symptoms include:
- Abdominal pain
- Memory lapses
- Heart palpitations
- Decreased sex drive
To definitively diagnose hereditary hemochromatosis doctors check both your iron storage levels and your iron saturation percentage. Doctors also perform genetic testing to confirm or rule out hereditary hemochromatosis in patients who have symptoms or who have unexplained high iron levels.
The goal of treatment for hereditary hemochromatosis and secondary iron overload is to lower the level of iron in your body to avoid organ complications.
With HHC, this is usually done by removing blood through therapeutic phlebotomy (TP), which is the same process used when you donate blood, except that it is done under a doctor’s care. The number of times you might need TP depends on your iron levels.
Because secondary iron overload is often linked with severe anemia and repeated blood transfusions, TP cannot be used to remove excess iron in these cases. Instead, you might need iron-binding medicine to help your body excrete iron, a treatment called chelation therapy. Rarely, chelation therapy may also be used for HHC.
Once your iron level has come down to normal, your doctor will develop a personalized ongoing plan for you that may include getting your iron level tested regularly, having TP and limiting the amount of iron you get through your diet.
For detailed information on hemochromatosis research and support groups, visit the hemochromatosis website of the Iron Disorders Institute.