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Thalassaemia is the commonest single gene disorder
1,2 of globin chain synthesis all over the world . It is
found as thalassaemia minor when the defect is
inherited from one of the parents and as
thalassaemia major when the defect is inherited
from both of the parents. Studies of thalassaemia in
Pakistan have shown that 5% of the population have
3
thalassaemia minor. Based on this figure it is
estimated that each year in Pakistan approximately
5000 children with thalassaemia major are born and
the total number of children with thalassaemia
4 major may be over 50,000.
Thalassaemia major is a serious disorder in which the
affected child is unable to synthesize its own
haemoglobin. The child remains well for the initial
three to four months but after this the signs and
symptoms of anaemia start appearing. The child
looks pale, becomes irritable, and fails to thrive.
Diarrhoea and frequent respiratory tract infections
are other frequent symptoms. Examination may
show hepato-splenomegaly. The lab investigations
show moderate to marked hypochromic microcytic
anaemia, numerous nucleated red cells and
5 markedly raised Hb-F. An early diagnosis and blood
transfusions may halt further deterioration. The
child has to be put on lifelong blood transfusions. As
a result of regular blood transfusions a large amount
of extra iron starts accumulation in the body. This
iron can be very harmful for many important organs
like heart and endocrine glands. The extra iron must
be removed from the body by using iron chelating
medicines. Stem cell transplantation is a curative
treatment of thalassaemia major. When done early
in life over 80% disease free survival can be
6
achieved. The facilities for stem cell transplant are
available at several places in Pakistan but the
procedure is expensive and due to the limited
capacity it can be offered to only a small number of
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patients.
Suhaib Ahmed. (2018) Thalassaemia in Pakistan, Journal of Islamic International Medical College, Volume-13, Issue-2.
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