SICKLE CELL ANEMIA: DIAGNOSTIC STRATEGIES AND EARLY IDENTIFICATION
Keywords:
Sickle Cell Anemia, Early Diagnosis, Neonatal Screening, Fetal Hemoglobin, Gene Therapy, Hydroxyurea, HemoglobinopathiesAbstract
Sickle cell anemia (SCA) is a globally relevant hereditary hemoglobinopathy caused by a mutation in the beta-globin gene that results in the production of hemoglobin S (HbS), leading to vaso-occlusion and chronic hemolysis. This narrative review analyzes current diagnostic strategies, highlighting universal neonatal screening as a game-changer in reducing infant morbidity and mortality by enabling early prophylaxis against infections. The study discusses diagnostic methods such as hemoglobin electrophoresis, HPLC, and genetic testing, essential for risk stratification. Furthermore, it addresses the correlation between accurate diagnosis and the implementation of disease-modifying therapies (such as hydroxyurea and new drugs like voxelotor and crizanlizumab) and emerging curative therapies (stem cell transplantation and gene editing), emphasizing the need for equitable access to these innovations.
