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- DOI 10.18231/j.ijcbr.13719.1761022783
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Sickle cell disease (SCD) is a monogenic disorder, yet its clinical presentation is influenced by a range of additional genetic and non-genetic factors. Despite decades of study, many aspects of the disease's genetic complexity remain unclear. Affecting millions globally, SCD is among the most common inherited blood disorders. Extensive research has identified both the primary genetic mutation and numerous modifier genes that affect disease severity. In recent years, significant progress has been made in understanding the molecular genetics, pathophysiology, and mechanisms behind symptom development and complications. Studies have explored cellular interactions, coagulation abnormalities, physiological changes, and links to other genetic conditions. Advances in screening—at the pre-conception, prenatal, and neonatal stages—have improved the ability to predict disease severity and clinical outcomes, helping reduce complications. Researchers have also investigated the influence of psychosocial and environmental factors on disease progression. Treatment strategies now include bone marrow and stem cell transplantation, with emerging therapies focusing on erythropoiesis regulation and gene editing. While SCD continues to carry a high risk of complications and mortality, ongoing developments in pharmacological treatments, gene therapy, and genetic modulation offer promising directions for more effective management. This review article is planned to cover the aspects of Sickle cell anemia which are known to us and try to find the gaps which are not discovered till yet and this review tried to focus on the current treatment modalities and futuristic treatment approaches for the sickle cell disease spectrum.
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