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1/ What is hemochromatosis?
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.
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2/ What are the symptoms of hemochromatosis?
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
3/ What causes hemochromatosis?
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, about 1 in 300Trusted Source 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.
4/ 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 blood transfusions
Diagnosing hemochromatosis
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.
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Blood testing
A blood test, such as a serum transferrin saturation (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 liver biopsy 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
MRI 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.
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