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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

mailto:jkoutelekos@yahoo.gr

(2013), 2, 3

| 102 www.spnj.gr ISSN: 2241-0481, E-ISSN: 2241-3634

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: jkoutelekos@yahoo.gr

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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