Download Haemochromatosis

PATIENT INFORMATION
Haemochromatosis
Pituitary gland
Skin
Heart
Liver
Pancreas
Organs of the body affected by too much iron
What is haemochromatosis?
It is a condition where too much iron accumulates in the tissues of the body.
Iron is an important element, especially for
the quality of our blood, but excess is harmful. The normal level of iron in the body is
about three grams in women and four grams
in men. In haemochromatosis the level rises
to more than 20 grams.
What is the cause?
The main cause is a hereditary disorder, in
which people have abnormal genes. These
cause their body to absorb too much iron
from the gut, resulting in an iron overload of
their tissues and organs.
Other people have iron overload from multiple blood transfusions or too much iron in
the diet, for example too many iron tablets.
Who gets haemochromatosis?
The hereditary form, which is common, can
affect anybody and affects both men and
women.
It is mainly a problem affecting AngloSaxons and usually only people from middle age onwards.
About one in eight people carry a single
gene. These people are referred to as heterozygous or carriers and do not have the
disorder.
However, about one in 200 people are
homozygous, that is they have double
genes. These people can have the disorder
to a variable extent; some go through life
without being aware they have a problem
while others can have serious problems.
In a city the size of Sydney there would be
about 15,000 people affected by the disorder while about 400,000 would be carrying
one haemochromatosis gene.
There are basically two types of tests:
• Blood tests for iron levels and iron-binding capacity.
• Chromosome tests. These inform us who
is free of the condition, who is homozygous (have the disorder) or who is heterozygous (carriers).
What are the symptoms?
Who should be screened?
The most common symptom is tiredness,
which can be extreme. This is due to an iron
overload.
Other symptoms may include painful joints,
upper stomach discomfort, loss of sex drive,
or the symptoms of diabetes such as excessive thirst and passing excessive urine.
Most patients do not develop their first
symptoms until aged between 30 and 60.
However, some homozygous people may
show no or only mild symptoms.
The skin may become discoloured, giving a
bronzed or leaden grey appearance.
First-degree relatives of people with known
haemochromatosis should be screened with
iron studies of the blood.
Genetic screening of the chromosomes is
now available and is helpful in genetic
counselling. These studies can identify carriers as well as people who are completely
free of the affected genes.
What are the risks?
If the condition is not diagnosed early the
overload of iron can accumulate in organs,
particularly the liver (causing cirrhosis), the
pancreas (leading to diabetes), the heart
(heart dysfunction) and the pituitary gland
(leads to loss of libido and impotence).
Some of these problems are life threatening,
hence the importance of early diagnosis.
Those with abnormal liver tests will require
a liver biopsy.
What tests can be done?
What is the treatment?
For those affected with high iron levels
about half a litre of blood is removed weekly until the blood iron level is normal.
This may take about two years in some people. Then the blood is taken every 3-4
months for the rest of their life to maintain a
normal iron level.
Patients can have a normal diet. Vitamin C
increases iron absorption supplements
should be avoided.
Carriers require no treatment.
What is the life expectancy?
Life expectancy is normal if the condition is
diagnosed and treated before cirrhosis of the
liver or diabetes develops.
AUTHOR: PROFESSOR JOHN MURTAGH
Copyright of Professor John Murtagh and Australian Doctor. This patient handout may be photocopied or printed out by a doctor free of charge for patient information purposes.