MOLECULAR GENETIC CHARACTERIZATION OF b-THALASSEMIA AND SICKLE CELL SYNDROME IN THE ALBANIAN POPULATION
Babameto-Laku A1,*, Mitre A2, Berisha S2, Mokini V1, Roko D1
*Corresponding Author: Anila Babameto-Laku, University Hospital Center “Mother Teresa”, Faculty of Medicine, Service of Medical Genetics, Rruga Dibres, 307, Tirana, Albania; Tel.: +68-20-94-170; Fax: +355-4-227-2782; E-mail: laku62@yahoo.com
page: 45

REFERENCES

1. Huisman THJ, Carver MFH, Efremov GD. A Syllabus of Human Hemoglobin Variants (Second Edition). Augusta: The Sickle Cell Anemia Foundation, 1998. 2. Weatherall D, Clegg J. The Thalassaemia Syndromes, 4th ed. Oxford: Blackwell Science. 2001: 237-238. 3. Colosimo A, Guida V, De Luca A, Cappabianca MP, Bianco I, Palka G, Dallapiccola B. Reliability of DHPLC in mutational screening of b-globin (HBB) alleles. Hum Mutat. 2002; 19(3): 287-295. 4. Boletini E, Svobodova M, Divoky V, Curuk M, Dimovski A, Liang R, Adekile AD, Huisman THJ. Sickle cell anemia, sickle cell β-thalassemia, and thalassemia major in Albania: characterization of mutations. Hum Genet. 1994; 93(2): 182-187. 5. Shaji RV, Edison ES, Poonkuzhali B, Srvastava A, Chandy M. Rapid detection of b-globins and polymorphisms by temporal temperature gradient gel electrophoresis. Clin Chem. 2003; 49(5): 777-781. 6. Ghanem N, Girodon E, M, Martin J, Fanen P, Plassa F, Goossens M. A comprehensive scanning rapid detection of β-globin gene mutations and polymophisms. Hum Mutat 1992; 1(3): 229-239 7. Angioletti M, Lacerra G, Boletini E, Di Noce F, Musollino G, Carestia C. b- And a-globin genotypes in Albanian patients affected by b-globin disorders. Haematologica 2002; 87(9): 1002-1003. 8. Mokini V, Duka D, Rosatelli C, Tuveri T, Demurtas M, Babameto-Laku A, Cao A. Molecular characterization of b-thalassemia mutations in Albania. The UNEPSA and European Congress of Paediatrics, held in Rome, 2000. Abstract Book, Haematology and Oncology. 2000; HO-265: 143. 9. Efremov GD, Juricic D, Petkov GH, Huisman THJ. b- Thalassemia in Yugoslavia and Bulgaria. Hematol Rev. 1992; 6: 83-95. 10. Huisman THJ. Frequencies of common b-thalassaemia alleles among different populations: variability in clinical severity. Br J Haematol. 1990; 76(4): 454-457. 11. Kollia P, Karababa Ph, Sinopulou K, Voskaridou E, Boussiou M, Papadakis M, Loukopoulos D. b-Thalassemia mutations and associated RFLPs in the Greek population. In: Roath S, Huisman THJ, Aksoy M, (Eds). Current Views on Thalassemia: With Special Reference to Its Mediterranean Presence. (5th Mediterranean Book Club Meeting, Istanbul, Turkey, 1990). London: Harwood Academic Publishers. 1992: 97-100. 12. Efremov GD. Thalassemias and other hemoglobinopathies in the Republic of Macedonia. Hemoglobin. 2007; 31(1): 1-15. 13. Baysal E, Indrak K, Bozkurt G, Berkalp A, Artikan E, Old JM, Angastiniotis M, Droushiotou A, Yüregir GT, Kilinç Y, Huisman THJ. The b-thalassaemia mutations in the population of Cyprus. Br J Haematol. 1992; 81(4): 607-609. 14. Amselem S, Nunes V, Viadaud M, Estville X, Wong C, d’Auriol L, Vidaud D, Galibert F, Baiget M, Goossens M. Determination of the spectrum of b-thalassemia genes in Spain by use of dot blot analysis of amplified b-globin DNA. Am J Hum Genet. 1988; 43(1): 95-100. 15. Pirastu M, Loudianos G, Murru S, Ristaldi SM, Cossu P, Pilia G, Porcu S, Vaccargiu S, Casu R, Deiana MCA. b-Thalassemia in the Italian population. In: Roath S, Huisman THJ (Eds). In: Roath S, Huisman THJ, Aksoy M, (Eds). Current Views on Thalassemia: With Special Reference to Its Mediterranean Presence. (5th Mediterranean Book Club Meeting, Istanbul, Turkey, 1990). London: Harwood Academic Publishers. 1992: 101-112. 16. Rund D, Filon D, Dowling C, Kazazian HH Jr, Rachmilewitz E, Oppenheim A. Molecular studies of b thalassemia in Israel. Mutational analysis and expression studies. Ann NY Acad Sci. 1990; 612: 98-105. 17. Tamagnini GP, Goncalves P, Ribeiro MLS, Kaeda J, Kutlar F, Baysal E, Huisman THJ. b-Thalassemia mutations in the Portuguese: high frequencies of two alleles in restricted populations. Hemoglobin. 1993, 17(1): 31-40. 18. Cao A, Rosatelli MC, Monni G, Galanello R. Screenng for thalassemia: a model of success. Obstet Gynecol Clin North Am. 2002; 29(2): 305-328. 19. Old J, Petrou M, Varnavides L, Layton M, Modell B. Accuracy of prenatal diagnosis for haemoglobin disorders in the UK: 25 years’ experience. Prenat Diagn. 2000; 20(12): 986-991. 20. Girot R, Begue P, Galacteros F. Diagnostic biologique des syndromes drepanocytaires. La Drépanocytose. Paris: John Libbey Eurotext. 2003: 13-29. 21. Serre J-L, Pissard S. Thalassemies et drepanocytose. Les Diagnostics Genetiques. Paris: Dunod. 2002: 105-119



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