Abstract
Hereditary Hemolytic Anemia in Children: Hemoglobinopathies, Thalassemia and Sickle Cell Disease — Etiopathogenesis, Clinical Features, Diagnosis, Differential Diagnosis, Management and Prevention This educational narrative review by Aditya Garad provides an overview of hereditary hemolytic anemia in children, with particular emphasis on thalassemia and sickle cell disease. It discusses the underlying genetic mechanisms, pathophysiology, clinical manifestations, diagnostic investigations, differential diagnosis, complications, management strategies, and preventive approaches associated with these inherited hematological disorders. The article describes the role of complete blood count, peripheral blood smear examination, reticulocyte count, hemolysis markers, hemoglobin analysis, and molecular genetic testing in the diagnostic evaluation of affected children. It also reviews current principles of pediatric care, including infection prevention, vaccination, hydroxyurea therapy for sickle cell disease, transfusion support, iron chelation therapy for selected thalassemia syndromes, and specialist assessment for potentially curative treatments. Additional topics include genetic inheritance, newborn screening, carrier screening, genetic counselling, long-term follow-up, psychosocial support, and public-health strategies for improving early diagnosis and access to care. The review highlights the importance of individualized treatment, multidisciplinary collaboration, and timely recognition of complications to improve health outcomes and quality of life in affected children. This manuscript is a narrative educational review based on published medical literature and clinical guidance from organizations and resources including the World Health Organization (WHO), the Centers for Disease Control and Prevention (CDC), the National Heart, Lung, and Blood Institute (NHLBI), GeneReviews, and peer-reviewed publications. It does not report original patient data or experimental findings. Keywords: Hereditary hemolytic anemia; pediatric hematology; hemoglobinopathies; thalassemia; sickle cell disease; hemolysis; hemoglobin electrophoresis; newborn screening; genetic counselling; anemia in children. Disclaimer: This article is intended for educational and academic purposes only. It does not replace professional medical advice, individualized clinical assessment, or current treatment guidelines.
