SUMMARY
There are more than 1000 genetically determined variants of haemoglobin (Hb). Although most are harmless, some can have detrimental effect. Sickle cell disease (SCD) is the most common heritable genetic disease in the world, which affects not just the patients’ health, but also the psychological well-being of their loved ones. The SCD mutation occurs in the beta-globin gene of an adult Hb resulting in a sickle shaped Hb (HbS) which has a poor solubility and can easily polymerize during deoxygenation, leading to haemolysis and vaso-occlusion, the main hallmarks of the disease. These hallmarks are associated with both acute and chronic complications. Despite the advancement in the medical care of individuals with SCD, patients are experiencing substantial chronic dysfunctions, nevertheless several, especially genetic, modifying factors modulate patients’ outcome. This review explores the genetic basis, epidemiology, global burden, pathophysiology, complications, modifiers, and management of sickle cell disease.
(BELG J HEMATOL 2023;14(2):41–58)
