ADVANCES IN DIAGNOSTIC TECHNIQUES FOR HEMOGLOBINOPATHIES AND CONTEMPORARY MANAGEMENT STRATEGIES FOR THALASSEMIA-A COMPREHENSIVE REVIEW

Hemoglobinopathies, comprises ofstructural hemoglobin variations and thalassemias, are prevalent single-gene illnesses worldwide which frequently results in notable morbidity and mortality. These disorders are caused by mutations that impact the amount or caliber of hemoglobin produced. Geographically, these disorders are more or less common in some areas, sickle cell anemia and beta thalassemia are particularly common. The genetic foundation, clinical presentations, and methods for diagnosing hemoglobinopathies are all included in this review. The focus is on improvements in diagnostic techniques, including capillary zone electrophoresis (CZE), high- performance liquid chromatography (HPLC), peripheral blood smear (PBS) studies, and complete blood counts (CBC). The study also discusses modern management techniques, such as novel gene therapies and blood transfusions, giving a thorough picture of the condition of care for patients with these illnesses today. The review also emphasizes how crucial early and precise diagnosis is to reducing the risk of serious illness consequences and enhancing patient outcomes.