Hemochromatosis is a very common type of iron overload disease. There are two types: primary (hereditary) hemochromatosis and secondary hemochromatosis. Primary hemochomatosis is a genetically inherited condition that affects the way that the body absorbs the iron in food. Secondary hemochromatosis is caused by another condition that affects the way iron is stored in the body.
Hemochromatosis causes the body to absorb and store an overabundance of iron. This extra iron builds up in organs and causes damage to them. If detected early, hemochromatosis can be managed. If left undetected, liver failure, heart failure or pancreas failure can occur due to the excess build up of iron. Those with hemochromotosis absorb on average 5-20 times more iron than the body needs. Iron is found primarily in red meat and iron fortified foods.
In patients with primary hemochromatosis, two known mutations are present on the HFE gene: C282y and H63D. The C282y mutation is passed down from both parents; it is the more effectual of the two mutations. Patients with two copies (homozygous) of the mutation will have more extreme expression of the mutation than a patient with only one copy (heterozygous).
Juvenile and neonatal hemochromatosis are caused by a mutation in the hemojuvelin gene rather than the HFE gene.
Secondary hemochromatosis is commonly caused by certain inherited forms of anemia such as thalassemia, antranferritinemia and aceruloplasminemia. Liver diseases such as alcoholic liver disease, a chronic hepatitis C infection, and NASH can cause secondary hemochromatosis.
Secondary hemochromatosis can result from a blood transfusion, long term kidney dialysis, and iron supplementation with or without high intake of vitamin C, which assists the body in storing iron.
A family history (a first –degree relative –parent or sibling) with hemochromatosis places you at a higher risk to develop this disease. A family history of alcoholism, liver disease, arthritis, or impotence increases your risk of hemochromatosis.
Hemochromatosis is often asymptomatic. When symptoms are present, they may not clearly indicate hemochromatosis because of their are similarity to symptoms indicative of other conditions or diseases.
Symptoms typically do not present themselves until middle age. Women are more likely to first express vague symptoms such as fatigue. Men with hemochromatosis are often are unaware of it until they have been diagnosed with another condition such as cirrhosis.
Other symptoms include:
If not detected early enough, the accumulation of iron may produce a variety of problematic conditions such as:
Diagnosis of hemochromatosis can be obtained through an evaluation of a patient's medical history, a physical exam, and blood testing. Blood tests can assess iron levels within the body. A transferrin saturation test will reveal how much iron has attached to an iron-carrying protein in the blood. Any transferrin saturation value above 45% is considered abnormal.
A total iron-binding capacity test assesses how well blood is transporting iron. A serum ferritin test indicates the level of iron in the liver. If abnormalities are detected, a doctor performs a blood test to check for the HFE mutation. In the event that the mutation is not present, the doctor further investigates alternative causes.
In some cases a liver biopsy may be used to determine how much iron has accumulated in the liver and to assess any damage resulting from the buildup.
When accurately diagnosed, hemochromatosis treatment is simple and affordable. By using a method called phlebotomy, blood is removed by the pint once or twice per week for many months, depending on the individual's blood iron levels. Regular testing will measure iron levels throughout this time.
Once iron levels are at a healthy level, regular maintenance therapy begins. Regular maintenance therapy will require the patient to give blood every few months for life. Annual tests are given to check iron levels.
People with hemochromatosis should not take supplements containing iron or vitamin C. Alcohol and raw seafood should also be avoided in order to prevent further liver damage.
There is no cure for hemochromatosis but with adequate care, most symptoms will improve with time. Arthritis often remains even after treatment.
Primary hemochromatosis is one of the most common genetic mutations in the U.S., affecting primarily Caucasians of Northern European descent. It is estimated that 1 in 8- 12 Americans is a carrier of one copy (heterozygous) of the mutation. Approximately 0.5% of the U.S. Caucasian population possesses two copies (homozygous) of the hemochromatosis gene. If both parents are carriers of the mutation, they have a 1 in 4 chance of having a child who will express the hemochromatosis mutation with 2 copies (homozygous) of the gene.
Men are more likely than women to receive a hemochromatosis diagnosis at an earlier age. Men often develop symptoms around the ages of 30-50, whereas the average age for diagnosis in women is 50.