Methods for Preventing and Treating Sickle Cell Anemia

Sickle cell disease (SCD) is an inherited blood disorder caused by a point mutation in the β-globin gene, resulting in the production of hemoglobin S. This abnormal hemoglobin causes red blood cells to adopt a sickle shape under deoxygenated conditions, leading to vaso-occlusion, chronic hemolysis, severe pain episodes, and multi-organ complications. This paper provides a comprehensive analysis of both preventive and therapeutic strategies for managing SCD across clinical, genetic, and public health dimensions. Preventive efforts include premarital and newborn genetic screening, genetic counseling, nutritional interventions, and lifestyle modifications such as smoking cessation. These strategies not only aim to reduce the transmission of the disease but also empower at-risk populations through informed reproductive choices. On the therapeutic front, significant progress has been made in pharmacological treatments, including hydroxyurea, voxelotor, L-glutamine, and crizanlizumab, which have collectively improved patient outcomes and reduced hospitalization rates. Blood transfusions continue to play a vital role, particularly in the prevention of stroke and acute chest syndrome. Furthermore, hematopoietic stem cell transplantation (HSCT) offers a curative option, while emerging gene therapy techniques—such as CRISPR-Cas۹ editing, lentiviral gene addition, and base editing—present transformative possibilities. Pain management, incorporating both pharmacologic and non-pharmacologic approaches, remains essential for improving quality of life. Despite these advancements, disparities in access to care and high treatment costs pose significant barriers, particularly in low-resource settings. This review underscores the importance of a multidisciplinary and equity-focused approach in addressing the global burden of SCD and advocates for integrated public health initiatives and research investments to ensure long-term care.

کلیدواژه ها:

Sickle Cell Disease ، Prevention Strategies ، Gene Therapy ، CRISPR-Cas۹ ، Fetal Hemoglobin