ΜΕΣΟΓΕΙΑΚΗ...
Transcript of ΜΕΣΟΓΕΙΑΚΗ...
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REVIEW ARTICLE
THALASSAEMIA
John Koutelekos1, Nikolaos Haliasos2
1. Laboratory collaborator, Nursing Department A, TEI, Athens, Greece
2. Associate Professor of Pediatrics-Hematology, Medical School, University of Ioannina
Abstract
Thalassaemia or Cooley's anaemia is an inherited disorder characterised by absent or decreased
production of one of the normal globin chains of haemoglobin in the red blood cells. The
introduction of new drugs capable of reducing the accumulation of iron in body organs due to
frequent blood transfusions, particularly the heart, liver and pancreas, has dramatically improved
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survival rates and the life expectancy. Despite these innovative therapeutic strategies the treatment
of thalassaemia, the fear for the disease itself and for the possible complications of invasive medical
procedures still affect the quality of life of the entire family.
Keywords: Thalassaemia, treatment, haemoglobin
Corresponding author: John Koutelekos E-mail: [email protected]
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1. Cao A, Saba L, Galanello R, Rosatelli M. Molecular
diagnosis and carrier screening for B-thalassemia. J
Am Med Assoc. 2007;278:12731277.
2. Cappellini M-D, Cohen A, Elefteriou A, Piga A, Taher
A. E :
. ., ,
, , ,2010.
3. Galanello R, Origa R. Beta-thalassemia. Orphanet J
Rare Dis. 2010; 5: 11.
4. Cao A, Galanello R. Beta-thalassemia. Genet. Med.
2010;12(2):6176.
5. Rund D, Rachmilewitz E. Beta-thalassemia. N. Engl. J.
Med. 2005;353(11):11351146.
6. Vichinsky EP. Changing patterns of thalassemia
worldwide. Ann N Y Acad Sci. 2005;1054:1824.
7. Chattopadhyay S. Rakter dosh-corrupting blood: the
challenges of preventing thalassemia in Bengal,
India. Soc Sc Med. 2006;63:26612673.
8. Borgna-Pignatti C, Cappellini MD, De Stefano P, Del
Vecchio GC, Forni GL, Gamberini MR, et al. Survival
and complications in thalassemia. Ann N Y Acad Sci.
2005;1054:40-7.
9. Khorasani G, Kosaryan M, Vahidshahi K, Shakeri S,
Nasehi MM. Results of the national program for
prevention of beta-thalassemia major in the Iranian
Province of Mazandaran. Haemoglobin.
2008;32(3):263-71.
10. Li D, Liao C, Li J, Xie X, Huang Y, Zhong H, Wei J.
Prenatal diagnosis of -thalessemia in Southern
China. Eur J Obstet Gyencol Reprod Biol.
2006;128:8185.
11. Zahed L, Bou-Dames J. Accep