Molecular Diagnostics of ß-Thalassemia

Molecular Diagnostics of ß-Thalassemia

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 Referenc...

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Bibliographic Details
Main Authors: Plaseska-Karanfilska Dijana, Atanasovska B, Bozhinovski G, Chakalova L, Kocheva S, Karanfilski O
Format: Article
Language:English
Published: Sciendo 2012-12-01
Series:Balkan Journal of Medical Genetics
Subjects:
hb lepore
hemoglobinopathy
molecular diagnostics
thalassemia.
Online Access:https://doi.org/10.2478/v10034-012-0021-z
Description
Summary: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.
ISSN:1311-0160

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