Hemochromatosis is a medical condition in which too much iron builds up in the body. Serious health problems can arise because your body cannot eliminate the excess iron.
The excess iron builds up in your:
liver
skin
heart
pancreas
joints
pituitary gland
This buildup of iron can cause tissue and organ damage.
Many people with hemochromatosis don’t have noticeable symptoms. When symptoms do exist, they may vary between individuals.
Some common symptoms include:
fatigue and weakness
weight loss
a low sex drive
abdominal pain
bronze or gray skin color
joint pain
The two forms of hemochromatosis are primary and secondary.
Primary hemochromatosis
Primary hemochromatosis, also known as hereditary hemochromatosis, usually results from genetic factors.
The HFE gene, or hemochromatosis gene, controls how much iron you absorb from food. It lives on the short arm of chromosome 6. The two most common mutations of this gene are C28Y and H63D.
Usually, a person with hereditary hemochromatosis inherits a copy of the defective gene from each parent. However, not everyone who inherits the genes develops the illness. Researchers are looking into why some people have symptoms of iron overload and others do not.
In the United States,
white, non-Hispanic people have this condition. Many do not realize they have it. Complications are more likely to occur in males and those with other medical problems like diabetes or liver disease.
In females, symptoms may not appear until after menopause. This is because menstruation tends to reduce iron levels in the blood. Once menstruation stops, levels may build up.
Secondary hemochromatosis
Secondary hemochromatosis occurs when a buildup of iron stems from another medical condition, such as erythropoietic hemochromatosis. In this disease, the red blood cells release too much iron into the body because they are too fragile.
Other risk factors for secondary hemochromatosis include:
alcohol dependency
a family history of diabetes, heart disease, or liver disease
taking iron or vitamin C supplements, which can increase the amount of iron the body absorbs
frequent
A doctor will:
ask about symptoms
ask about any supplements you may take
ask about personal and family medical history
carry out a physical exam
recommend some tests
The symptoms can resemble those of many other conditions, making diagnosis difficult. Several tests may be necessary to confirm a diagnosis.
Blood testing
A blood test, such as a
(TS) test, can measure iron levels. A TS test measures how much iron is bound to the protein transferrin, which carries iron in your blood.
A blood test can also give an idea about your liver function.
Genetic testing
DNA testing can show if a person has genetic changes that may lead to hemochromatosis. If there is a family history of hemochromatosis, DNA testing can be useful for those planning to start a family.
For the test, a healthcare professional may draw blood or use a swab to collect cells from your mouth.
Liver biopsy
The liver is the main place where the body stores iron. It is usually one of the first organs damaged by iron buildup.
A
can show if there is too much iron in the liver or if liver damage is present. The doctor will remove a small piece of tissue from your liver for testing in a lab.
MRI tests
scans and other noninvasive tests can also measure iron levels in the body. A doctor may recommend an MRI test instead of a liver biopsy.
Treatment is available for managing high iron levels.
Phlebotomy
The main medical treatment is phlebotomy. This involves taking blood and iron from the body. A healthcare professional puts a needle into a vein, and blood flows into a bag, like when donating blood.
At first, around 1 pint of blood will be removed
a week. When iron levels return to normal, you may need treatment every 2 to 4 months.
Chelation
Another option is
. This is a developing therapy that can help manage iron levels, but it is expensive and not a first-line treatment option.
A doctor may inject the drugs or give you pills. Chelation helps your body expel excess iron in your urine and stool.
However, there may be side effects, such as pain at the injection site and flu-like symptoms.
Chelation may be suitable for people with heart complications or other contraindications for phlebotomy.
Measures that can help you manage your health with hemochromatosis include:
having annual
to monitor iron levels
avoiding multivitamins, vitamin C supplements, and
avoiding
, which can cause additional damage to the liver
taking care to avoid infections, for example, by having regular vaccinations and following
practices
keeping a log of iron levels to monitor changes
following all the doctor’s instructions and attending all appointments
contacting your doctor if symptoms worsen or change
asking your doctor about
if symptoms affect your quality of life
The outlook for hemochromatosis varies. If a person receives treatment before organ damage has occurred, treatment can improve the outlook.
Treatment can prevent further damage and may reverse any damage that is already present. With early treatment, there is a good chance of a normal lifespan.