Hemochromatosis is an inherited
disease in which too much iron builds up in your body. It is one
of the most common genetic diseases in the United States.
Iron is a mineral found in many
foods. Your body normally absorbs about 10 percent of the iron
in the food you eat. If you have hemochromatosis, you absorb
more iron than you need. Your body has no natural way to get rid
of the extra iron. It stores it in body tissues, especially the
liver, heart and pancreas. The extra iron can damage your
organs. Without treatment, it can cause your organs to fail.
The most common treatment is to remove some blood, just like
when you donate blood. This is called therapeutic phlebotomy.
Medicines may also help remove the extra iron. Your doctor might
suggest some changes in your diet.
two types of hemochromatosis: primary (hereditary) and
secondary. Each type has a different cause.
A defect in
the genes that control how much iron you absorb from your diet
causes primary hemochromatosis. Primary hemochromatosis is
sometimes called hereditary hemochromatosis or classical
hemochromatosis. Most cases of hemochromatosis are primary
most commonly involved in primary hemochromatosis are called HFE
genes. Abnormal HFE genes cause the body to absorb too much
iron. Humans inherit two copies of most of the genes in the
body, one from each parent. You have primary hemochromatosis if
you inherit two copies of the abnormal HFE gene, one from each
inherit one abnormal HFE gene and one normal HFE gene, you are a
hemochromatosis “carrier.” Carriers do not usually develop the
disease, but they can pass the abnormal gene on to their
children. About 1 in 10 people in the United States are believed
to be hemochromatosis carriers.
parents are carriers of the abnormal HFE gene, then each of
their children has a 1 in 4 chance of inheriting a pair of
abnormal HFE genes.
Other types of abnormal genes also
can cause hemochromatosis, but less commonly. Scientists are
still studying what other changes to normal genes may cause
This type of hemochromatosis is
usually the result of another disease or condition that can
cause iron overload. Diseases or conditions that may cause
anemias, such as thalassemia and aplastic anemia
A condition called African iron
overload, which is a combination of an inherited disorder and
aceruloplasminemia, both rare inherited diseases
liver disease, such as hepatitis, alcoholic liver disease, or
nonalcoholic steatohepatitis (“steato” means “fatty”)
hemochromatosis can sometimes be caused by too much iron from:
- Iron intake
(from oral iron pills or injected iron)
Long-term kidney dialys
more people are being diagnosed with hereditary
haemochromatosis without showing any symptoms. Symptoms can be
difficult to spot, as they are often mild initially, with many
potential causes. Fatigue and lethargy are common, and joint
pain or arthritis may occur. Sexual problems, particularly
impotence in men or loss of menstruation in women, may be an
important early sign.
As the iron
overload increases, sufferers may experience the following
disease: the liver is the main site of excessive iron build
up. The disease causes scarring or liver fibrosis leading to
cirrhosis. Symptoms include abdominal pain, jaundice, swelling
of the ankles or abdomen and enlargement of the liver or
spleen. In severe cases bleeding from the gut or coma can
disease: excess iron deposits may lead to one of two heart
conditions. These are heart failure (indicated by tiredness,
lack of energy, shortness of breath and ankle swelling) and
abnormal heart rhythms. Patients may experience extra heart
beats known as ectopics or disorders where the heart goes
either too fast (tachycardia) or too slow (bradycardia).
Pancreatic disease: sugar diabetes (diabetes mellitus) may be
an early sign of haemochromatosis and develops in up to half
of all patients with advanced disease. Diabetes is due to
excess iron in the pancreas gland damaging the insulin
producing cells. This complication together with the dark skin
pigmentation that can occur has led to haemochromatosis
sometimes being called 'bronze diabetes'.
rare symptoms: endocrine gland problems particularly with
pituitary, thyroid or sex hormones can occur, as can skin and
Why or how do I get haemochromatosis?
haemochromatosis is an inherited disease.
thought to be mainly caused by a mutation of a gene called HFE,
which probably allows excess iron to be absorbed from the diet.
This mutation is known as C282Y and to develop haemochromatosis
you usually need two genes (one from each parent) to be C282Y.
However, not everyone with the mutation may develop the disease
and it may occur if only one C282Y gene is present.
another mutation labelled H63D elsewhere on the HFE gene may
occur alone or with C282Y and also influence iron levels.
Who is at risk?
Haemochromatosis is more common in Caucasian or white
populations, with about 1 in 300 to 1 in 400 affected. About
half that number are affected in black populations.
more likely to have hereditary haemochromatosis and suffer from
it at an earlier age, as women regularly lose iron in
menstruation or use stores in pregnancy.
How does the disease develop?
of hereditary haemochromatosis usually occurs between the ages
of 30 and 60 as the build up of iron takes years. However, a
rapid form of the disease does affect children. If left
untreated excess iron builds up in the organs especially the
liver, heart and pancreas. This may cause heart or liver
failure, which can be fatal.
A hospital specialist in liver or
heart disease is more likely to spot haemochromatosis, as most
GPs are unfamiliar with the disease. Blood tests are carried out
first but these are not always reliable. Patients with symptoms
often have a liver biopsy to assess liver damage and confirm the
presence of excess iron.
Screening of relatives of patients with hereditary
haemochromatosis is usually recommended.
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