Molecular Diagnostics of β-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 β-thalassemias and hemoglobin (Hb) variants at the International Referenc...

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Detalles Bibliográficos
Autores principales: Atanasovska, B, Bozhinovski, G, Chakalova, L, Kocheva, S, Karanfilski, O, Plaseska-Karanfiska, D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Macedonian Science of Sciences and Arts 2012
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776673/
https://www.ncbi.nlm.nih.gov/pubmed/24052746
http://dx.doi.org/10.2478/v10034-012-0021-z
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author Atanasovska, B
Bozhinovski, G
Chakalova, L
Kocheva, S
Karanfilski, O
Plaseska-Karanfiska, D
author_facet Atanasovska, B
Bozhinovski, G
Chakalova, L
Kocheva, S
Karanfilski, O
Plaseska-Karanfiska, D
author_sort Atanasovska, B
collection PubMed
description 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.
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spelling pubmed-37766732013-09-19 Molecular Diagnostics of β-Thalassemia Atanasovska, B Bozhinovski, G Chakalova, L Kocheva, S Karanfilski, O Plaseska-Karanfiska, D Balkan J Med Genet Articles 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. Macedonian Science of Sciences and Arts 2012-12 2012-12-22 /pmc/articles/PMC3776673/ /pubmed/24052746 http://dx.doi.org/10.2478/v10034-012-0021-z Text en © Macedonian Academy of Sciences and Arts This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivs license (http://creativecommons.org/licenses/by-nc-nd/3.0/), which means that the text may be used for non-commercial purposes, provided credit is given to the author.
spellingShingle Articles
Atanasovska, B
Bozhinovski, G
Chakalova, L
Kocheva, S
Karanfilski, O
Plaseska-Karanfiska, D
Molecular Diagnostics of β-Thalassemia
title Molecular Diagnostics of β-Thalassemia
title_full Molecular Diagnostics of β-Thalassemia
title_fullStr Molecular Diagnostics of β-Thalassemia
title_full_unstemmed Molecular Diagnostics of β-Thalassemia
title_short Molecular Diagnostics of β-Thalassemia
title_sort molecular diagnostics of β-thalassemia
topic Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3776673/
https://www.ncbi.nlm.nih.gov/pubmed/24052746
http://dx.doi.org/10.2478/v10034-012-0021-z
work_keys_str_mv AT atanasovskab moleculardiagnosticsofbthalassemia
AT bozhinovskig moleculardiagnosticsofbthalassemia
AT chakaloval moleculardiagnosticsofbthalassemia
AT kochevas moleculardiagnosticsofbthalassemia
AT karanfilskio moleculardiagnosticsofbthalassemia
AT plaseskakaranfiskad moleculardiagnosticsofbthalassemia

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