Balkan Journal of Medical Genetics

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

MATERIALS AND METHODS

The human subjects that participated in this study were referred to the RCGEB for laboratory investigations for suspected haemoglobinopathies. Informed consent was obtained in accordance with the Declaration of Helsinki. Peripheral blood samples were obtained by standard venipuncture. Standard blood test results were obtained for each patient. Levels of Hb A, Hb A2, Hb F and Hb variants were measured by cation exchange high performance liquid chromatography (HPLC) [16]; red cell osmotic fragility was assessed by the osmotic fragility test as described before [17]. Genomic DNA was isolated following a standard phenol extraction ethanol precipitation protocol. DNA was dissolved in TE buffer, pH 8.0 and stored at 4°C. The multiplex single-nucleotide primer extension assay for detection of Mediterranean b-thal mutations and the duplex PCR assay for detection of the Hb LBW deletion were performed as described elsewhere (Atanasovska et al., in preparation). A subset of samples were analyzed by sequencing of the PCR-amplified HBB gene using the ABI PRISM™ Big Dye Terminator v.1.1 Kit (Life Technologies, Carlsbad, CA, USA). The sequences of the primers used for PCR amplification and sequencing are available upon request.

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