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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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 b-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.
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