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© Springer International Publishing Switzerland 2016. This chapter summarizes how a simple point mutation in the human genome has evolved to become a global public health problem, as well as a remarkable example of evolutionary biology, population genetics and clinical epidemiology. Through malaria selection and interactions with other genes, the sickle mutation of the HBB gene reached high population frequencies throughout much of sub- Saharan Africa and in parts of the Mediterranean, the Middle East and India before spreading globally through subsequent population migration. Sickle cell anemia is a severe disease that is still associated with a high mortality in low- and middleincome countries, where simple public health interventions could help signifi cantly in reducing its long-term health burden, and with high health-care costs in highincome countries, where life expectancy and quality of life remain suboptimal. Alongside huge progress in the understanding of the natural history and epidemiology of sickle cell anemia during the last century, signifi cant gaps, discussed in this chapter, still remain, highlighting the need for further research to better prevent the adverse consequences of this disease.

Original publication





Book title

Sickle Cell Anemia: From Basic Science to Clinical Practice

Publication Date



23 - 48