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An
Investigation into cause and effects of Thalassaemia
What Is Thalassaemia?
Thalassaemia may have originated over 50,000 years ago. In a
valley south of Italy and Greece now covered by the
Mediterranean Sea. The name Thalassaemia is derived from a
Greek word meaning sea. But Thalassaemia was recognised as a
clinical entity by Dr Thomas Cooley and Dr Pearl Lee who
described five cases of Thalassaemia in 1925. (Oscar,
Charles, Daniel, Eero, Peter, Munseys, Richard, Roy and
Thomas 1987 page 284)
Thalassaemia is an inherited disorder in which there is an
abnormality in one or more of the globin genes. To
understand more about Thalassaemia you need to know a little
about blood and about anaemia. Blood is made up of a lot of
red cells in a clear, slightly yellow liquid called plasma.
Red blood cell are produced constantly. Blood cells are
replaced very quickly. That's why people can often give
blood frequently.
The red in a persons blood contains a substance called
Haemoglobin. Haemoglobin is very important because it
carries oxygen from the lungs to where ever it is needed in
the body. It also contains a lot of iron, and when red blood
cells are broken down, most of the iron from the Haemoglobin
is used again to make new Haemoglobin. People lose some iron
from their bodes when urine is passed, this is compensated
for when eating food which contains iron. The main reason
why people need iron in their food is to make Haemoglobin.
(McLaren June 1993 page 1)
Forms of Thalassaemia
There are two forms of Thalassaemia.
Thalassaemia Major?
Thalassaemia major is sometimes known as Cooleys Anaemia,
Homozygous, Bete Thalassaemia or Mediterranean Anaemia. Is a
serious inherited childhood anaemia. Children with
Thalassaemia major cannot make enough haemoglobin. Because
of this, their bone marrow cannot produce enough red blood
cells. The red blood cells that are produced are nearly
empty. (Thalassaemia newsletter Sep 1988 page 1)
Thalassaemia Minor?
People with Thalassaemia Minor, sometimes known as Trait,
carry Thalassaemia but they are not ill. They are completely
healthy and normal but some of them have slight anaemia.
Most people with Thalassaemia Minor do not even know that
they have it. It is only discovered if the person has a
special blood test or if they have a child with Thalassaemia
Major. It is important to know if you have Thalassaemia
Minor later in life. The reason for this is that it may
cause some problems if the person and their partner wants to
start a family. Thalassaemia minors red blood cell are also
different from normal blood cells.
(Thalassaemia Newsletter July 1988 page 1)
Number of people who are carriers of Thalassaemia around the
World and Pakistan
There are 100,000 children born in the world with
Thalassaemia major. In Pakistan β-thalassemia is the most
common hemoglobin disorder. In a population of nearly 130
million, and with a β-thalassemia carrier frequency of 5.4%,
it is estimated that each year more than 4000 children are
born with transfusion dependent β-thalassemia . The affected
children become a great source of socioeconomic burden on
their families as good quality and screened blood increases
its cost. In addition chelation therapy is also very
expensive. Identification of the genetic defects in the
carriers for genetic counseling and provision of prenatal
diagnosis can reduce the incidence of β-thalassemia . As
co-inheritance of a-thalassemia reduces the severity of the
disease, molecular diagnosis can also help in the clinical
management of these patients.
Who is likely to carry Thalassaemia?
People who are likely to carry the gene of Thalassaemia are
people with Mediterranean descent, for example Cyprus,
Egypt, Greece, India, Italy, Lebanon, Malta, Middle East,
Turkey and some parts of South East Asia.
Can Thalassaemia major patients also carry other illnesses?
Thalassaemia major patients can also carry other illnesses
such as Sickle Cells, Diabetes, liver dis.-function, and
other illness that non Thalassaemia people can get for
example Cancer.
What known cause for Thalassamia?
There is not a known cause for Thalassaemia except that is
inherited through the genes.
What are the Symptoms? Are they detected early in childhood?
Children with Thalassaemia major are normal at birth but
become anaemic between the ages of three months and eighteen
months. They become pale, do not sleep well, do not want to
eat, and may vomit their feeds. If children with
Thalassaemia major are not treated, they have miserable
lives. They usually die between one and eight years old.
What is the "quality of life" for a Thalassaemic?
A chronic illness always causes some limitation of quality
of life, especially when it requires frequent and complex
treatment, as Thalassaemia does. The treatment should not
interfere with a Thalassaemic's life. In particular doctors
and hospitals should make the effort to arrange out-patient
visits and visits for transfusions so they interfere as
little as possible with normal life. Treatment should not
interrupt schooling or work.
(Thalassaemia newsletter Dec 1991 page 2)
How long can a person with Thalassamia major live?
These days most Thalassaemics grow up to become adults, and
earn their own living. Most also find a partner and get
married. Now a number of Thalassaemia major patients have
their own children.
It is very hard to know the answer for Thalassaemics who are
well at present. The disorder and its influence are changing
almost from day to day, because of advances in treatment.
Thalassaemic patients are now living longer. Today it is
reasonable to think that people with Thalassaemia major, who
have been well treated from the beginning, may well live as
long as people without Thalassaemia. Only time will tell.
Even so Thalassaemics live with more risks than non
Thlassaemic, because of the amount of medication and
treatment they receive. But all medical treatments include
some risk. (Thalassaemia newsletter Dec. 1991 page 2)
Can people with Thalassaemia major and minor have healthy
children?
People with Thalassaemia major can have babies only if their
partner does not carry any sort of Thalassamia. But all
Thalassaemia major's patients children will carry
Thalassaemia minor.
If a Thalassaemia major partner does not carry any
Thalassaemia gene none of the children would have
Thalassaemia major.
What stages does a woman with Thalassaemia go throw
states before, during and after pregnancy?
For a woman with Thalassaemia to have children they must
have normal sexual development. Many young woman with
Thalassaemia are not having their periods, or whose periods
have started and then stopped. In this case they can be
treated medically so that they produce eggs. If they are not
physically fit, a pregnancy could be risky for them and the
baby. An expected mother should be fit, meaning they must
use their pump regularly, her serum ferritin level should be
around 1000 and her heart and liver should not have been
damaged by iron overload. However, even if they are not
perfectly fit, there is a chance that they could have a
fairly normal pregnancy. Woman are advised to stop Desferal
when they are trying to become pregnant, or as soon as they
are pregnant. There is no evidence that Desferal can harm
the foetus, but in general it is a good idea for any
pregnant woman to not take drugs during pregnancy. Mothers
who breast feed can start taking Desferal again as soon as
the baby is born. Desferal does not pass from the mother's
body into milk and so cannot harm the baby. Before a woman
with Thalassaemia decides to have a baby they must take
account about the long-term future, their own health, and
survival or whether they will have support from their
family's.
The chance of having a baby with Thalassaemia minor decrease
if their partners have Thalassaemia minor.
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