c








 
 
 


 
  

 

 
Laboratory Department
UHC ơMother Terezaơ, Tirana,
Albania
XV BCLF Conference, Antalya 2007
 þ


h Thalassemia is among the most common genetic
disorders worldwide (heterozygote advantage
against malaria).
h The uŒthalassemias are widespread throughout the
Mediterranean region, Africa, the Middle East, the
Indian subcontinent and Far East.
 þ


h uŒthalassemia is caused by any of more than 200 point
mutations and, rarely by deletions.

h ithin each population at risk for uŒthalassemia a small

number of common mutations is found.

h Todayƞs epidemiology of thalassemia is strikingly different

from that of the past. ߌ
ߌThalassemia is now widespread in
Europe, Americas and Australia. In 2002:
ƛ ~ 240 million healthy carriers worldwide.
ƛ ~ 200,000 ߌߌThal major births per year (Cao et al,
2002).

h The most affected children are born in countries with limited

resources; as a result, these children do not receive the
treatment they need, dying in childhood.
childhood.
 þ



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 þ


h
revention is essential
h According to the HO, the annual cost of a nationwide
prevention programme in most countries is
approximately equal to the cost of treating one annual
birth cohort of patients for one year.
c
 




 

 
 




 

 
 

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h ALBANIA is a relatively
small country in the
Mediterranean area,
located on the Adriatic
and Ionian seas.

h urface area: 28742 km2

h
opulation: 3.5million
 c



 


h Until its eradication, Malaria has been the main medical

and social cause for the decrease in the population of
Albania.

h The disease was endemic especially on the coastal

provinces and lowland areas (Ashta, Adhami).

h Malaria influenced Albania provoking high frequencies of

thalassemic and sickle cell subjects as a memorial to its
long and great presence in the past.

h Arceological and paleopathological studies on sceletons

from the first century B.C. have detected lesions in the
bones that are typical for homozygous uŒthalassemia.
(Nemeskeri and Dhima 1988; Boletini1991)
 c



 


h Albania is a country with a high endemicity of uŒ

thalassemia.

h According to the partial screening made during the ƞ70s

the frequency of uŒthalassemia carriers is about 7%.

h The distribution of uŒthalassemia carriers is quite

heterogeneous; the frequency is higher in the western
region (Boletini, Duka).

h The thalassemia carrier rate was found as 4,9% among

native Albanian immigrants in Greece (Manitsa 2002).
 c



 


h During the ƞ90s, Boletini and Duka carried out molecular

studies for different mutations associated with uŒ
thalassemia.

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h Untill now, we donƞt have any prevention strategy or national

program

h Each year there are 15Œ

15Πnew cases of thalassemia major

h Actually we have ~5 patients with thalassemia major. The

improvement in the clinical management of the disease over
the last 15 years led to an impressive increase in the lifespan of
patients. The quality of life is directly linked to quality and
quantity of treatment

h or the health care system in Albania it is difficult to perform an

adequate treatment for the increasing numbers of patients
c



  

h Lushnja is located about

8 km from Tirana, the
capital of Albania

h Lushnja is actually a
strategic point of
communication between
the north and the south
of Albania
 c



  

h Thalassemia is one of the major concerns for the health

care system in this district

h This area is the epicenter of incidence of thalassemia in

Albania

h A screening activity in this area, is considered very cost

effective

h The effectiveness of the screening process is much

higher in the fertile age population in this area
  




h To evaluate the prevalence of the thalassemia carrier

status in high school students of Lushnja

h To educate the participants and medical care givers

about thalassemia, its inheritance and the significance of
this screening project

h To increase the awareness of the population in the area

about the importance of routine screening

h
reventing a certain number of potential new cases in

the future
 —
 








h Definition and approval of the methodology and respective
indicators

h Training of the staff (technical laboratory and nurse staff)

h Educational meeting with children and teachers in the selected

schools

h Distribution of the informative leaflets. This leaflet is very

important for  main reasons:
a) it will explain to students and parents what is thalassemia
and why testing is very important for all of them
b) it will be filled with important personal data and it includes
parental consent, too.
 —
 








h The screening program was carried out on a volontary basis
h e collaborate with national and local health and educational
authorities

h The screening study was performed by AoLaM

h inancial suport was provided by UAID ƛ Albania

Our program consisted of educating, screening and consueling
senior high school students about beta thalassemia
 —



h The target population was made of healthy high school

adolescent students

h The group selected to participate in the project is

appropriate because:
Πthe expected prevalence of the carrier status in this area
is very high
Πvery soon they will start their sexual life and will,
eventually, be parents
Πthe group is easily accessible
Πthe educational and cultural level is relatively high
 c



 


h e prepared the results using the micromapping method

to obtain a more complete picture of the situation.

h amples number was propotional as populations number

in all areas
 —




h rom May till December  we performed our study in
8 high schools of the Lushnja district

h 18 students agreed to undergo the screening program

h The age of the students varied from 14Œ
14Œ19 years old.
The average age was 17 years old

h 1.% of the participants was female, while 38.4% male

38.40

61.60
 —


h enous blood was taken into
EDTA tube

h Complete blood count and red

blood cell indices were
measured by a Mythic 
automated cell counter on the
same day of collection

h Hemoglobin electrophoresis
was done on Hydrasis ^ ebia
automated system
 —


h A primary screening of all the samples to determine red cell
indices

h A secondary screening involving haemoglobin analysis in

subject with reduced MC and/or MCH

h A secondary screening involving haemoglobin analysis in

subject with familial history

h amples with MC <79

<9 (microcytosis) and MCH <
(hypocromia) were selected for electrophoresis

h amples with HbA

HbA 3,5%
3,5% were diagnosed as thalassaemia
minor
 i


h 3% of the 18 samples were observed to
have non normal RBC numbers and indices.

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11.1% 11.28%
10.29%
10%
Cermë
Divjakë
Gorre
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4.38%
Krutje
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h Our data confirmed the high prevalence of uŒ

thalassemia carriers in Lushnja ((&'
((&'))

h The prevalence of Hb carriers was grater in the

northern parts of the region (&('
(&('))

h Total blood count is very useful to suspect the

thalassemia, but not Hb trait

h ebia automated Hb electrophoresis has a high

sensibility and specificity for uŒthalassemia
diagnosis and for identification of Hb variants
 ë  

h Our data suggests longŒ

longŒterm application of
educational and screening programs

h Lushnja screening project will serve as an

example of national screening and education
program in Albania

h The high prevalence of Hb trait in the area

justified complete screening based on
determining red cell indices and haemoglobin
pattern analysis
—


 



 

§





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2