Advances in Hemoglobinopathies: From Molecular Insights to Therapeutic Innovations

Hemoglobinopathies, such as thalassemia and sickle cell anemia, are among the most common genetic disorders worldwide, impacting more than 250,000 newborns annually. These inherited conditions arise from mutations in globin genes that cause abnormalities in the structure or synthesis of hemoglobin. While initially concentrated in tropical and subtropical regions, migration and demographic shifts have broadened their impact worldwide. Advances in the understanding of hemoglobin structure and gene regulation have elucidated mechanisms underlying these disorders, such as mutations affecting transcription, RNA splicing, and protein stability. Diagnostic strategies like hemoglobin electrophoresis, high-performance liquid chromatography (HPLC), and next-generation sequencing (NGS) have enhanced the detection and classification of hemoglobinopathies. Management approaches range from blood transfusions and iron chelation therapy to emerging genetic therapies, including gene editing with CRISPR-Cas9 and autologous stem cell transplantation. These innovations hold transformative potential, offering curative prospects for conditions previously managed symptomatically. Comprehensive screening and genetic counseling remain pivotal in reducing disease prevalence, especially in high-risk populations. This paper highlights the molecular basis, clinical variations, diagnostic advances, and therapeutic developments in hemoglobinopathies, emphasizing the global need for equitable access to innovative treatments.