Sickle Cell Disease: Pathophysiology, Global Burden, and Current Treatment Strategies

Abstract

The beta-globin gene mutation in sickle cell disease brings about the development of anomalous hemoglobin S (HbS) which leads to the creation of abnormal blood cells known as sickle cells. HbS polymerizes under low-oxygen levels which causes deformations of red blood cells into The sickle shape. The process of sickled cells blocking regular blood circulation leads to vaso-occlusive crises as well as chronic hemolytic anemia and organ damage and produces a very poor life quality. The different complications of the disease such as acute chest syndrome and strokes and splenic system failure and chronic pain account for high death rates and increased illness burden. SCD exists throughout the world but it remains most common in areas formerly burdened by malaria including Sub-Saharan Africa and India together with the Middle East and the Mediterranean. The current year brings about 300,000 new SCD births across the world while low-resource nations suffer the most from inadequate disease management systems because of limited healthcare capabilities. Medical scientific progress has led to raised survival possibilities alongside improved quality of life outcomes for SCD patients located in high-income nations. Multiple disease management approaches including newborn screening, prophylactic antibiotics, vaccinations and hydroxyurea therapy and blood transfusions and bone marrow transplantation with gene therapy have proven influential in managing SCD. The field of gene therapy presents itself as a promising solution which now shows promise to patients as a potential cure. Multiple knowledge gaps persist after the introduction of these new strategies. The absence of early diagnosis together with insufficient treatment options and insufficient care programs which operate in low- and middle-income countries leads to persistently high childhood death rates resulting in reduced life spans for children. The affected populations face increased challenges because of economic limitations together with social discrimination and insufficient public health efforts. The existing therapeutic approaches for treating this condition aim primarily to control symptoms while failing to deliver a cure for the disease. Patients need regular monitoring when taking hydroxyurea whereas blood transfusions result in two major risks of iron overload and alloimmunization. Because of high costs and donor requirements bone marrow transplant stands as a curative option which limits its accessibility. Most patients lack access to gene therapeutic treatments because they are still experimental procedures and because monetary barriers exist. This research examines SCD molecular pathophysiology while assessing disease prevalence across different regions then reviews therapeutic approaches and argues for equal healthcare distribution. The necessary link between medical innovation and availability must be established to enhance health outcomes for sickle cell disease patients worldwide.