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Atanasovska B, Bozhinovski G, Chakalova L, et al. Molecular Diagnostics of β-Thalassemia. Balkan J Med Genet. 2012;15:61-5doi: 10.2478/v10034-012-0021-z.
Atanasovska, B., Bozhinovski, G., Chakalova, L., Kocheva, S., Karanfilski, O., & Plaseska-Karanfiska, D. (2012). Molecular Diagnostics of β-Thalassemia. Balkan journal of medical genetics : BJMG, 1561-5. https://doi.org/10.2478/v10034-012-0021-z
Atanasovska, B, et al. "Molecular Diagnostics of β-Thalassemia." Balkan journal of medical genetics : BJMG vol. 15 (2012): 61-5. doi: https://doi.org/10.2478/v10034-012-0021-z
Atanasovska B, Bozhinovski G, Chakalova L, Kocheva S, Karanfilski O, Plaseska-Karanfiska D. Molecular Diagnostics of β-Thalassemia. Balkan J Med Genet. 2012 Dec;15:61-5. doi: 10.2478/v10034-012-0021-z. PMID: 24052746; PMCID: PMC3776673.
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Balkan J Med Genet. 2012 Dec;15:61-5. doi: 10.2478/v10034-012-0021-z.

Molecular Diagnostics of β-Thalassemia.

Balkan journal of medical genetics : BJMG

B Atanasovska, G Bozhinovski, L Chakalova, S Kocheva, O Karanfilski, D Plaseska-Karanfiska

Affiliations

  1. Research Centre for Genetic Engineering and Biotechnology "Georgi D. Efremov," Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia.

PMID: 24052746 PMCID: PMC3776673 DOI: 10.2478/v10034-012-0021-z

Abstract

A high-quality hemoglobinopathy diagnosis is based on the results of a number of tests including assays for molecular identification of causative mutations. We describe the current diagnostic strategy for the identification of β-thalassemias and hemoglobin (Hb) variants at the International Reference Laboratory for Haemoglobinopathies, Research Centre for Genetic Engineering and Biotechnology (RCGEB) "Georgi D. Efremov," Skopje, Republic of Macedonia. Our overall approach and most of the methods we use for detection of mutations are designed for the specific target population. We discuss new technical improvements that have allowed us to substantially reduce the average time necessary for reaching a conclusive diagnosis.

Keywords: Hb Lepore; Hemoglobinopathy; Molecular diagnostics; Thalassemia

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