Thalassaemia
is an inherited (genetic) condition. A faulty
gene causes the haemoglobin (see below)
in the red blood cells to be abnormal. This
leads to abnormally rapid breakdown of the
red blood cells and severe anaemia. It is
common in areas surrounding the Mediterranean
Sea, hence the name (thalassa is Greek for
‘the sea’, haima Greek for ‘blood’).
Haemoglobin
is the red, iron-containing protein in red
blood cells that transports oxygen. It contains
two kinds of protein (globin): alpha chain
globin and beta chain globin. Abnormal alpha
globin is very rare; when present it often
causes death. Most cases of thalassaemia
involve defective beta chains, and this
is called beta thalassaemia.
There are
two forms of beta thalassaemia – thalassaemia
major, sometimes called Cooley’s anaemia,
and thalassaemia minor. Thalassaemia major
is the more serious.
Symptoms
Thalassaemia
major causes failure to thrive in children,
breathlessness, tiredness on minor exertion,
yellow skin (Jaundice) and enlargement of
the spleen. Red cells are broken down in
the spleen, and the enlargement is due to
a build-up of red cell products there.
The symptoms
and signs are caused by the anaemia and
the reduced oxygen-carrying capacity of
the blood. The body responds by producing
more red cells in the bone marrow of flat
bones. This can cause characteristic enlargement
of these bones, such as bossing (bulging)
of the skull in children.
Thalassaemia
minor, often called the thalassaemia trait,
causes no symptoms.
Causes
The defective
gene must be present in both parents for
thalassaemia major to develop.
If only
one parent has the gene, and it is passed
on, this causes thalassaemia minor.
Treatment
Thalassaemia
in children may require transfusion of normal
blood cells to allow normal development.
The accumulation of iron in the body from
the breakdown of red cells also needs treatment
or it will cause complications, including
cirrhosis of the liver.
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Thalassaemia
