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Thalassemia is a group of inherited
disorders of hemoglobin synthesis
characterized by a reduced or absent
output of one or more of the globin chains
of adult hemoglobin .
The name is derived from the Greek
words Thalasso = Sea" and "Hemia =
Blood" in reference to anemia of the sea.
 ë  

3t appears when a person does not

produce enough alpha chains for
hemoglobin.

3t is mainly prevalent in the Africa, the

Middle East , 3ndia, and occasionally in
Mediterranean region countries.
j m 
3t appears when a person does not produce
enough beta chains for hemoglobin.

3t is mainly prevalent in the Mediterranean

region countries , such as Greece, Cyprus,
3taly, Palestine and Lebanon.

 

ë thalassemia: There are four types
categorized according to the severity of
their effects on persons with thalassemia.
m thalassemia: There are 3 types
categorized according to severity:
Thalassemia minor
Thalassemia intermedia
Thalassemia major
Monogenic disorder: a single gene disorder
ß thalassemia result from over 150
i

mutations  m 
of the ß globin genes that result
in the absence or a reduction of the ß globin
chains
 

Source: Thalassemia.com



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3f a carrier (thalassemia minor)

marries a non-carrier, on average
half of their children will be carriers,
but none will develop thalassemia
major.



m   


However if two carriers marry, in

each pregnancy there is a 25%
chance of a non-carrier child, a 50%
chance of a carrier child
(thalassemia minor), and a 25%
chance of a child with thalassemia
major.

  
 

      
   

Source: Emirates Thalassemia Society


  
 
 

  
   

Source: Emirates Thalassemia Society


  m 

 
 (
.
This can also be called (carrier state),
meaning that the person carries the
genetic trait for thalassemia.
Such people usually practice normal
life, but may suffer from a mild form of
anemia.

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 !
 .
Caused by the reduced availability of
beta chains in hemoglobin and can
lead to moderate to severe anemia
and an array of complications
including bone deformities and
splenomegaly.

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.
Caused by the unavailability of beta
chains in hemoglobin leading to a very
severe and fatal if left untreated anemia.
3t requires regular blood transfusions
leading to iron-overload which is treated
with chelation therapy to prevent death
from organ failure.
m  
  
Thalassemic RBCs offers protection
against severe malaria caused by
$  .
The effect is associated with reduced
parasite multiplication within RBCs.
Among the contributing factors may be
the variable persistence of hemoglobin F,
which is relatively resistant to digestion
by malarial hemoglobinases.
!
 
 
Thalassemia carriers (trait):
Usually no signs or symptoms are
apparent, except for a mild anemia.
Carriers are usually initially detected
through screening, or when performing
routine CBC (complete blood count).
Later it can be confirmed using
hemoglobin electrophoresis.
!
 
  

Thalassemia major:
Signs such as paleness and growth
retardation, are readily detectable
since the first year of life. Those are
mainly due to severe anemia. Later
bone deformities and hepato-
splenomegaly developsR
x   

Thalassemia minor:
-Blood smear shows hypochromia and
microcytosis (similar to 3ron Deficiency
Anemia).
-Blood indices: MCV< 75 fl, Hb usually>
10, Hematocrit> 30%, RDW < 14%.
-Hemoglobin A2 often elevated > 3%,
sometimes reaching 7-8%.
x   
 

Thalassemia major:
-Blood smear shows profound
microcytic anemia, with extreme
hypochromia, tear drop, target
cells and nucleated RBCs.
-Hemoglobin may be very low at
3-4 g/dl.
j     m 
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Source: Cooley¶s Anemia Foundation

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Early prenatal diagnosis can be done
using first fetal blood sampling, and
later chorion villus biopsy and direct
analysis of the globin genes.
The error rate in experienced
centers is now well under 1%.


 
  

Thalassemia minor (trait) :
No need for any treatment, since the
carriers are usually symptomless.
Thalassemia major:
The severe life-threatening anemia,
requires regular life long blood
transfusion, to compensate for damaged
red blood cells.


 
  
 

Thalassemia Major:
The continuous blood transfusion will
eventually lead to iron overload, which
must be treated with chelation therapy to
avoid organ failure.
Source: Cooley¶s Anemia Foundation


 
  
 

Thalassemia Major -Continued:
Other novel treatments like bone-marrow
transplantation are very costly.
New treatments includes the use of oral
chelators, to replace the chelation treatment
using Desferal delivered by infusion under
the skin through a battery-operated pump.
Gene therapy is also an option still researched
$ 

 
Pre marital screening to make sure that
the couple are not both carriers.
Provision of counseling and health
education for the thalassemics, their
families and the public .
Provision of prenatal testing for
thalassemia.
Reduction of marriages between
relatives.

 
  

Countries with migrants coming from
areas with high prevalence of thalassemia
such as the Mediterranean region, should
be aware of this problem.
Families with thalassemia carriers may
have increased number of cases including
thalassemia major due to intermarriages
between relatives, especially in closed
communities

 
  
 

The following recommendations are
advised:
1- Training physicians and medical staff
on thalassemia diagnosis and treatment.
2- Provision of screening and counseling
services for those exposed.
3- Provision of appropriate health care
and management for thalassemia
patientsR

 
  
 

4- Overcoming the communication
problems, including language
barrier through utilizing translators
and nurse practitioners.
5- Community educational
programs, involving community
leaders and providing social support.
$  
   
" 
 

 
 
Reduced availability of blood for
transfusion.
Reduced availability of Desferal
pumps, less than third of the patients
have access to pumps.
High cost of treatment.
$  
   
" 
 

 
  

Limited services that blood banks
are able to give.
Unavailability of counseling services.
Lack of experience and appropriate
training among the health providers
to handle thalassemia cases.
%


Acknowledgement
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