MOLECULAR DIAGNOSTICS OF β-THALASSEMIA
Atanasovska B1, Bozhinovski G1, Chakalova L1, Kocheva S2, Karanfilski O3,
Plaseska-Karanfiska D1,*
*Corresponding Author: Professor Dr. Dijana Plaseska-Karanfilska, Research Centre for Genetic
Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Krste
Misirkov 2, Skopje 1000, Republic of Macedonia; Tel: +389(0)2 3235410; Fax: +389 (0)2 3115434; E-mail:
dijana@manu.edu.mk
page: 61
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REFERENCES
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.
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. 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.
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.
5. Galanello R, Origa R. b-Thalassemia. Orphanet J
Rare Dis. 2010;5:11.
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.
7. Efremov DG. Thalassemias and other hemoglobinopathies
in the Republic of Macedonia. Hemoglobin.
2007,31(1):1-15.
8. Dimovski A, Efremov DG, Jankovic L, et al. b-Thalassemia
in Yugoslavia. Hemoglobin. 1990; 14(1):
15-24.
9. Efremov GD. b-, db-Thalassemia and Hb Lepore
among Yugoslav, Bulgarian, Turkish and Albanian.
Haematologica. 1990; 75(Suppl 5): 31-41.
10. Petkov GH, Efremov GD, Efremov DG, et al. b-
Thalassemia in Bulgaria. Hemoglobin. 1990; 14(1):
25-33.
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.
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. 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.
14. Huisman THJ, Carver MFH, Baysal E. A Syllabus of
Thalassemia Mutations (1997). Augusta: The Sickle
Cell Anemia Foundation, 1997.
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.
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.
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.
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