<abstract xmlns="http://www.w3.org/1999/xhtml"><p> 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.</p></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.

Molecular Diagnostics of ß-Thalassemia

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts, Krste Misirkov 2, Skopje 1000, Republic of Macedonia

Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Skopje, Republic of Macedonia

Pediatric Clinic, Medical Faculty, University “Stt. Cyril and Methodius,” Skopje, Republic of Macedonia

Hematology Clinic, Medical Faculty, University “Stt. Cyril and Methodius,” Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

{"article-title":"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...

Molecular Diagnostics of ß-Thalassemia

Publié en ligne: 22 déc. 2012

Pages: 61 - 65

DOI: https://doi.org/10.2478/v10034-012-0021-z

This content is open access.