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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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
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spelling doaj-1aa4a8252d9245bd9c8ee20f0d57db702021-09-05T18:26:44ZengSciendoBalkan Journal of Medical Genetics1311-01602012-12-0115Supplement616510.2478/v10034-012-0021-zMolecular Diagnostics of ß-ThalassemiaPlaseska-Karanfilska Dijana0Atanasovska B1Bozhinovski G2Chakalova L3Kocheva S4Karanfilski O5Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje 1000, Republic of MacedoniaResearch Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of MacedoniaResearch Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of MacedoniaResearch Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of MacedoniaPediatric Clinic, Medical Faculty, University “Stt. Cyril and Methodius,” Skopje, Republic of MacedoniaHematology Clinic, Medical Faculty, University “Stt. Cyril and Methodius,” Skopje, Republic of MacedoniaA 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.https://doi.org/10.2478/v10034-012-0021-zhb leporehemoglobinopathymolecular diagnosticsthalassemia.
collection DOAJ
language English
format Article
sources DOAJ
author Plaseska-Karanfilska Dijana
Atanasovska B
Bozhinovski G
Chakalova L
Kocheva S
Karanfilski O
spellingShingle Plaseska-Karanfilska Dijana
Atanasovska B
Bozhinovski G
Chakalova L
Kocheva S
Karanfilski O
Molecular Diagnostics of ß-Thalassemia
Balkan Journal of Medical Genetics
hb lepore
hemoglobinopathy
molecular diagnostics
thalassemia.
author_facet Plaseska-Karanfilska Dijana
Atanasovska B
Bozhinovski G
Chakalova L
Kocheva S
Karanfilski O
author_sort Plaseska-Karanfilska Dijana
title Molecular Diagnostics of ß-Thalassemia
title_short Molecular Diagnostics of ß-Thalassemia
title_full Molecular Diagnostics of ß-Thalassemia
title_fullStr Molecular Diagnostics of ß-Thalassemia
title_full_unstemmed Molecular Diagnostics of ß-Thalassemia
title_sort molecular diagnostics of ß-thalassemia
publisher Sciendo
series Balkan Journal of Medical Genetics
issn 1311-0160
publishDate 2012-12-01
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 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.
topic hb lepore
hemoglobinopathy
molecular diagnostics
thalassemia.
url https://doi.org/10.2478/v10034-012-0021-z
work_keys_str_mv AT plaseskakaranfilskadijana moleculardiagnosticsofßthalassemia
AT atanasovskab moleculardiagnosticsofßthalassemia
AT bozhinovskig moleculardiagnosticsofßthalassemia
AT chakaloval moleculardiagnosticsofßthalassemia
AT kochevas moleculardiagnosticsofßthalassemia
AT karanfilskio moleculardiagnosticsofßthalassemia
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