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Sickle cell disease | Archives of Disease in Childhood | Volume 100, Issue 1, pp. 48-53

“Despite the numbers born with sickle cell disease (SCD) in resource-poor countries, remarkably, few detailed studies have described the clinical course and complications of the disease in that context. Even today, the majority of those born with the disease in Africa, where more than 80% of the affected births occur, die undiagnosed in early childhood, presumably from preventable causes that include invasive bacterial diseases, malaria, and severe acute anemia.”

Abstract

Sickle cell disease (SCD) is a single gene disorder causing a debilitating systemic syndrome characterised by chronic anaemia, acute painful episodes, organ infarction and chronic organ damage and by a significant reduction in life expectancy. The origin of SCD lies in the malarial regions of the tropics where carriers are protected against death from malaria and hence enjoy an evolutionary advantage. More recently, population migration has meant that SCD now has a worldwide distribution and that a substantial number of children are born with the condition in higher-income areas, including large parts of Europe and North and South America. Newborn screening, systematic clinical follow-up and prevention of sepsis and organ damage have led to an increased life expectancy among people with SCD in many such countries; however, in resource-limited settings where the majority continue to be born, most affected children continue to die in early childhood, usually undiagnosed, due to the lack of effective programmes for its early detection and treatment. As new therapies emerge, potentially leading to disease amelioration or cure, it is of paramount importance that the significant burden of SCD in resource-poor countries is properly recognised.