Thalassemia –Information on Development and Treatment
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With emergency passport!
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Notfallpass für Thalassämie-Patienten
Emergency passport for thalassemia patients
Fiche d’urgence pour les patients atteints de thalassémie
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Contents
What does thalassemia mean?
What is thalassemia?
How is the diagnosis of thalassemia made?
What symptoms can occur with thalassemia?
How is thalassemia treated?
Why does iron overload develop with thalassemia?
What can be done against iron overload?
What must be kept in mind for the treatment with iron chelating agents?
Emergency passport for thalassemia patients
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What does thalassemia mean?
The term “thalassemia” comes from the Greek word
“Thalassa”, meaning sea. The name originated in the fact
that the disease is mainly found around the Mediterranean
Sea. Therefore thalassemia is also called “Mediterranean
anemia”. In English thalassemia is also called “Cooley's
anemia”, after its discoverer.
Thalassemia is a hereditary, lifelong disease. It is not
contagious, but instead is transmitted from the mother or the
father to the children through the genes. Thalassemia is among
the most common inherited diseases worldwide. Thalassemia
is found especially in residents of the Mediterranean
region, the Middle East, in Africa and vast areas of Asia.
Persons from other regions are affected by thalassemia much
more rarely. Because of emigration and immigration, however,
the disease can be found around the globe.
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Thalassemia is particularly prevalent in regions in which there
is or previously was a risk for malaria. Thalassemia amounted
to a survival advantage here, because it offers a certain
protection from malaria.
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What is thalassemia?
Red blood cells in the body transport vital oxygen from the lung
to every part of the body. For the transport, the oxygen is bound
to the red blood pigment “hemoglobin” in red blood cells.
With thalassemia, hemoglobin in the red blood cells is formed
incorrectly through a change in the genetic material. This
leads to too few red blood cells being formed, the red
blood cells not functioning correctly and dying off quickly.
Anemia develops as a result. Then the body is not supplied
Blood with red blood cells Blood cells with hemoglobin
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with enough oxygen. The red blood pigment hemoglobin
is normally formed from four protein chains, of which there
are two identically-matching pairs. They are called alpha
and beta chains. The way these chains are joined together
determines the structure of the red blood pigment. If its
structure is pathologically altered, it cannot function properly.
Hemoglobin also contains iron, which
is responsible for the transport of
oxygen, as an essential component. Depending on which of the protein chains of hemoglobin is pathologically altered, a distinction is made between alpha and beta thalassemias. Beta thalassemia is the most common thalassemia. In its most severe form, both beta chains in the hemoglobin are changed. Physicians call this thalassemia major. Patients with milder forms of beta thalassemia, in which the two beta chains of hemoglobin are changed simultaneously, usually have few or no symptoms.
Hemoglobin
beta chain
alpha chain
iron
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How is the diagnosis of thalassemia made?
If the physician suspects thalassemia based on symptoms
or the family history, he will take a blood sample. If the
size and the volume of the red blood cells as well as their
hemoglobin content are too low in the blood count, this may
be a sign of thalassemia. Under the microscope (blood smear),
red blood cells frequently look more pale and smaller than
normal and are of different sizes and deformed. Typically, with
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thalassemia, so-called target cells, which are red blood cells
stained in a targeted manner, are found under the microscope.
An analysis of hemoglobin ultimately confirms whether and
what form of thalassemia a patient has.
Thalassemia is an inherited disease. By investigating the
genes, the defect in the genetic information for hemoglobin
can be identified.
If they are planning to have a child, the parents should
have an investigation of the family history (blood count,
hemoglobin analysis) and a genetic analysis performed in
order to be able to assess the risk of transmission.
A diagnosis is also possible in unborn children still in the
womb (prenatal diagnostics).
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Thalassemia major usually causes symptoms due to the
anemia like paleness, jaundice, tiredness, shortness of breath,
beating of the heart, headaches, dizziness, frequent infections
and enlargement of the liver and spleen as in the first year
of life. Children with thalassemia also frequently lag behind in
their physical development.
The bone marrow tries to compensate for the lack of oxygen
by forming more red blood cells.
This may lead to enlargement and deformation of the bones,
and they will become less stable and break easily.
Thanks to good
treatment
options,
thalassemia
patients today
can usually have
a normal family,
school, and
professional life.
What symptoms can occur with thalassemia?
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Patients with thalassemia major
receive blood transfusions on
a regular basis. This ensures
that there will always be enough
functional red blood cells in
the body. This form of therapy
contributes to better skeletal
development and has a positive
influence on the size of the liver
and spleen.
In rare cases in which a suitable
donor can be found, the
thalassemia can be cured through
a bone marrow transplant.
How is thalassemia treated?
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Through blood transfusions, the iron level increases over
the long term in the body. Iron overload may develop. Every
blood bag with red blood cells contains approximately 200 to
250 mg of iron, which is a component of hemoglobin. Since
the body cannot itself actively excrete iron or save it in
large amounts, more iron collects in the body with every
transfusion.
After around 15 to 20 transfusions, the limit of the storage
capability is reached.
Why does iron overload develop with thalassemia?
1-2 mg of iron per day
Iron absorption from food
500mg of iron in two blood bags
Iron absorption from blood transfusions
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In many thalassemia patients, the body also tries to compensate
for anemia by absorbing more and more iron via the intestines.
This increases iron overload even further. In some patients,
iron overload even develops simply through increased iron
absorption via the intestines, without them receiving additional
blood transfusions.
Excess iron may be deposited in vital organs and damage
the tissue of, for example, the liver, heart, thyroid gland,
pancreas, pituitary gland or bone marrow.
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Frequent damage to organs from iron deposits in the heart, liver and glandular tissue
Pancreas
Diabetes
Gonads
Inactive gonads
Stunted growth, infertility
Pituitary gland
Thyroid glands
Under-active
Liver
Cirrhosis of the liver
Heart
Damage to the heart muscle and
impact on the heart functioning
The damaging role of surplus iron in the bone marrow is currently being researched.
Bone marrow(sternum/pelvis)
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Iron overload itself cannot be felt. First symptoms may occur
only once iron is deposited in the organs and has likely already
damaged these organs. In order to recognize iron overload as
early as possible, iron stored in the body is measured regularly.
If the iron content is so high that it can damage tissue, the
iron overload will be treated. The excess iron will be removed
from the body with the aid of medications. These medications
are called iron chelators. Together with the free iron, they
form insoluble compounds – so-called iron chelates – that are
passed out in the stools or in urine.
What can be done against iron overload?
Medication (iron chelating
agent)
Iron
Iron chelateThe compound is passed out in the stools
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Iron chelators remove iron effectively from tissue. But this
process requires a lot of time and patience since only a small
part of the iron is always available for the medication. Even if
patients with thalassemia do not feel iron overload directly, it
is important that they take their medications regularly and
correctly and not interrupt the treatment. They should also
conscientiously keep regular follow-up appointments with
the physician. They will thereby contribute in large part to
the success of their treatment themselves – and thus to
maintaining their health.
What must be kept in mind for the treatment with iron chelating agents?
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In the following emergency passport, you can enter various
data on you and your disease, possibly with the support of your
attending physician. The passport must be removed from the
brochure and always carried by the person (for example, in a
purse or wallet). In this way, in the event of an emergency
or hospitalization, the physicians and the medical personnel
can quickly check the most important information on the
patient and his disease.
Emergency passport for thalassemia patients
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