Genetic Basis and Molecular Diagnosis of Hemoglobinopathies
Comprehensive Hematology and Stem Cell Research, Nima Rezaei, Editör, Elsevier Science, Oxford/Amsterdam , Amsterdam, ss.147-161, 2024
- Yayın Türü: Kitapta Bölüm / Mesleki Kitap
- Basım Tarihi: 2024
- Yayınevi: Elsevier Science, Oxford/Amsterdam
- Basıldığı Şehir: Amsterdam
- Sayfa Sayıları: ss.147-161
- Editörler: Nima Rezaei, Editör
- İstanbul Üniversitesi-Cerrahpaşa Adresli: Hayır
Özet
Hemoglobinopathies are inherited disorders that mainly affect erythrocytes. They are characterized by structurally abnormally hemoglobin (Hb) variants that result from the mutations occurring in globin genes, and the thalassemias, which occur because of the reduced amount of one type of hemoglobin chain. Thalassemias are mainly classified as α-thalassemia and β-thalassemia, while the major hemoglobin variants are HbS and HbC. Since hemoglobinopathies result from point mutations, and/or small/large deletions, conventional and molecular diagnostic tools, such as Sanger sequencing, Next-Generation Sequencing (NGS), Multiplex Ligation Probe Assay (MLPA), GAP-polymerase chain reaction (PCR) are used to diagnose the variants and subtypes. The aim of this chapter is to describe the hemoglobinopathies, their molecular mechanisms and the diagnostic methods that can be used to diagnose the individuals with hemoglobinopathies.