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Molecular Diagnostics of ß-Thalassemia Cover

References

  1. 1. Henderson S, Timbs A, McCarthy J, et al. Incidence of haemoglobinopathies in various populations - the impact of immigration. Clin Biochem. 2009; 42(18): 1745-1756.10.1016/j.clinbiochem.2009.05.01219497317
  2. 2. Weatherall DJ. Disorders of the synthesis or function of haemoglobin. In: Warrell DA, Cox TM, Firth JD, Benz EJ Jr, Eds. Oxford Textbook of Medicine, 4th ed. Oxford: Oxford University Press. 2003; 676-677.
  3. 3. Baglioni C. The fusion of two peptide chains in Hemoglobin Lepore and its interpretation as a genetic deletion. Proc Natl Acad Sci USA. 1962; 48(11): 1880-1886.10.1073/pnas.48.11.188022109013968954
  4. 4. Ramirez F, Mears JG, Nudel U, et al. Defects in DNA and globin messenger RNA in homozygotes for Hemoglobin Lepore. J Clin Invest. 1979; 63(4): 736-742.10.1172/JCI109357372009438334
  5. 5. Galanello R, Origa R. b-Thalassemia. Orphanet J Rare Dis. 2010;5:11.10.1186/1750-1172-5-11289311720492708
  6. 6. Thein SL, Menzel S, Lathrop M, Garner C. Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Hum Mol Genet. 2009; 18(R2):R216-R223.10.1093/hmg/ddp401275870919808799
  7. 7. Efremov DG. Thalassemias and other hemoglobinopathies in the Republic of Macedonia. Hemoglobin. 2007,31(1):1-15.10.1080/0363026060105672617365000
  8. 8. Dimovski A, Efremov DG, Jankovic L, et al. b-Thalassemia in Yugoslavia. Hemoglobin. 1990; 14(1): 15-24.10.3109/036302690090022512200761
  9. 9. Efremov GD. b-, db-Thalassemia and Hb Lepore among Yugoslav, Bulgarian, Turkish and Albanian. Haematologica. 1990; 75(Suppl 5): 31-41.
  10. 10. Petkov GH, Efremov GD, Efremov DG, et al. b- Thalassemia in Bulgaria. Hemoglobin. 1990; 14(1): 25-33.10.3109/036302690090022522200762
  11. 11. Kobayashi M, Rappaport E, Blasband A, et al. Fluorescence-based DNA minisequence analysis for detection of known single-base changes in genomic DNA. Mol Cell Probes. 1995; 9(3): 175-182.10.1006/mcpr.1995.00277477010
  12. 12. Galbiati S, Chiari M, Macellari M, Ferrari M, Cremonesi L, Cretich M. High-throughput mutational screening for b-thalassemia by singlenucleotide extension. Electrophoresis. 2007; 28(23): 4289-4294.10.1002/elps.20070018118040987
  13. 13. Vrettou C, Traeger-Synodinos J, Tzetis M, Malamis G, Kanavakis E. Rapid screening of multiple bglobin gene mutations by real-time PCR on the LightCycler: application to carrier screening and prenatal diagnosis of thalassemia syndromes. Clin Chem. 2003; 49(5): 769-776.10.1373/49.5.76912709368
  14. 14. Huisman THJ, Carver MFH, Baysal E. A Syllabus of Thalassemia Mutations (1997). Augusta: The Sickle Cell Anemia Foundation, 1997.
  15. 15. Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004; 32(Suppl 1): D537-D541.10.1093/nar/gkh00630874114681476
  16. 16. Samperi P, Mancuso GR, Dibenedetto SP, Di Cataldo A, Ragusa R, Schilirò G. High performance liquid chromatography (HPLC): a simple method to quantify Hb C, O-Arab, Agenogi and F. Clin Lab Haematol. 1991; 13(2): 169-75.10.1111/j.1365-2257.1991.tb00266.x1718652
  17. 17. Malamos B, Fessas P, Stamatoyannopoulos G. Types of thalassaemia trait carriers as revealed by a study of their incidence in Greece. Br J Haematol. 1964; 8(1): 5-14. 10.1111/j.1365-2141.1962.tb06489.x14468797
Language: English
Page range: 61 - 65
Published on: Dec 22, 2012
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 issues per year

© 2012 Dijana Plaseska-Karanfilska, B Atanasovska, G Bozhinovski, L Chakalova, S Kocheva, O Karanfilski, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons License.