Download What is haemochromatosis?

Hereditary Haemochromatosis
What is haemochromatosis?
Hereditary haemochromatosis is one of the most common genetic disorders in northern Europe. It
is a metabolic disorder that causes increased absorption of iron from the digestive tract. The iron
is deposited in the body tissues and organs. Over time, the iron accumulates in the body where it
may become toxic and cause damage. Excess iron in the heart, liver, pancreas, and pituitary
causes the more severe complications of hereditary haemochromatosis.
Other forms of haemochromatosis include:
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Juvenile haemochromatosis. This affects adolescents and young adults ages 15 to 30.
This form leads to a severe overload of iron which can cause heart and liver disease.
Neonatal haemochromatosis. In this form, iron builds up very quickly in an infant's liver
and can cause severe organ damage.
Transfusion related haemochromatosis. This is a result of iron overload caused by
many blood transfusions in patients with disorders that cause them to not make
enough red blood cells
These forms are not related to hereditary haemochromatosis with the common gene variants
p.C282Y and p.H63D that this website covers.
What causes haemochromatosis?
Haemochromatosis is a genetic disease, often most prevalent among people who originate from
Northern Europe. Genetic means that haemochromatosis is inherited. A person will be born with
haemochromatosis if two haemochromatosis genes are inherited--one from the mother and one
from the father. A person who has only one haemochromatosis gene is healthy and said to be a
carrier of the gene. A carrier has an increased chance to have a child with haemochromatosis.
This type of inheritance is called autosomal recessive. Autosomal means that the gene is on one
of the first 22 pairs of chromosomes, and not on the X or Y chromosome. Therefore, males and
females are equally affected by the disease. Recessive means that two copies of the gene, one
inherited from each parent, are necessary to have the condition. Once parents have had a child
with haemochromatosis, there is a one in four, or 25 percent, chance with each future pregnancy
for another child to be born with haemochromatosis. This means that there is a three out of four,
or 75 percent, chance for another child to not have haemochromatosis. First-degree relatives of
people with known haemochromatosis should undergo screening for the disorder.
.Although haemochromatosis is an autosomal recessive disorder (which usually means men and
women are equally affected); iron overload from hereditary haemochromatosis is more common
in men than women. The age of onset is also earlier in males than females. The reasons for
these differences are thought to be because of the protective effect of iron loss through menses
in females. In other words, females do not build up iron as quickly over time.
What are the symptoms of haemochromatosis?
The following are the most common symptoms of haemochromatosis. However, each individual
may experience symptoms differently. Symptoms may include:
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Lethargy and weakness
Irritability
Depression
Joint pain
Bronze or yellowish skin colour
Loss of body hair
Impotence in men
Amenorrhea in women ( no periods)
Infection
Untreated or severe haemochromatosis may lead to the following:
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Liver function abnormalities and enlargement
Abnormal heart rhythm
Heart failure
Enlarged spleen
Diabetes
The symptoms of haemochromatosis may resemble other medical problems. Always consult
your doctor for a diagnosis.
How is haemochromatosis diagnosed?
Haemochromatosis is usually discovered during a medical examination through a routine blood
test. In addition to a complete medical history and physical examination, diagnostic procedures
for haemochromatosis may include the following:
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Iron levels. People with haemochromatosis have higher levels of iron in their blood.
Transferrin saturation test (TS). A type of iron study (blood test) that measures the
percentage of transferrin and other mobile, iron-binding proteins saturated with iron. It is
helpful in finding early haemochromatosis.
Ferritin levels. Ferritin is a protein in the blood that increases when iron stores in the body
increase. It rises most significantly when iron levels are quite high.
Liver biopsy. A procedure performed to remove tissue or cells from the liver for
examination under a microscope and to weigh the iron in the liver.
Genetic testing. A blood test that looks for the mutations that causes hereditary
haemochromatosis.
Treatment for haemochromatosis
Specific treatment for haemochromatosis will be determined by your doctor based on:
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Your age, overall health, and medical history
Extent of the disease
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Your tolerance for specific medications, procedures, or therapies
Expectations for the course of the disease
Your opinion or preference
Treatment may include:
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Periodic phlebotomy. A procedure that involves removing blood from the body. Done
regularly at first, once iron stores have returned to normal it can be done once or twice a
year as needed.
Chelation therapy. Treatment with a drug that tightly binds and removes iron from the
body. ( only for very severely affected individuals)
Avoiding iron and vitamin C supplements
Avoiding excessive alcohol intake
Treatment of the resulting diseases or conditions
If hereditary haemochromatosis is discovered and iron stores returned to normal before
damage to organs occurs, patients with it will live a normal lifespan