Advanced Methods for Detection of Haemoglobinopathies

Haemoglobinopathies, a group of genetic disorders affecting the structure or production of haemoglobin, remain a significant public health concern globally, particularly in regions such as sub-Saharan Africa, Southeast Asia, and the Mediterranean. These disorders include conditions like sickle cell disease and various forms of thalassemia, which necessitate early and accurate diagnosis for effective management and treatment. Normal adult haemoglobin (HbA) is designated αᴬ₂βᴬ₂. Variant haemoglobin is derived from gene abnormalities affecting the α-globin genes (HBA1 or HBA2) or β-globin (HBB) structural genes. More than a thousand haemoglobin variants have been identified relative to changes in the globin chains. Advanced methods for the detection of haemoglobinopathies have dramatically improved our diagnostic capabilities, facilitating more precise and comprehensive investigation of these conditions. The use of next-generation sequencing (NGS), permits the screening of multiple genes linked with haemoglobinopathies, Polymerase chain reaction (PCR)-based techniques, such as quantitative PCR (qPCR) and droplet digital PCR (ddPCR) are essential tools for investigating specific mutations in haemoglobin genes, the integration of CRISPR-Cas9 technology for gene editing provides a promising stage for both diagnostic and therapeutic applications in haemoglobinopathies, while Advancements in mass spectrometry have also expressively facilitated to the detections of haemoglobinopathy. These would definitely help in the development of targeted therapeutic strategies and personalized management plans. Data were generated from PubMed, Google Scholar, Nature, BMC, Tailor and Francis, MDPI, Springer, and some other related data. This review was aimed to provide appreciable information on the current methods for the investigation of haemoglobinopathies.