What is the role of genetics in the etiology of sickle cell disease (SCD)?

Updated: Jul 24, 2019
  • Author: Ivan Ramirez, MD; Chief Editor: Felix S Chew, MD, MBA, MEd  more...
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Ever since carriers of the mutated gene survived the deadly malaria epidemics that are thought to have occurred thousands of years ago, the gene has continued to survive in malaria-endemic areas. However, in areas such as the United States, where malaria is not a problem, the trait no longer provides a survival advantage and instead poses the threat of sickle cell disease if the carrier's children inherit the sickle cell gene from both parents (ie, HbSS). Although carriers of sickle cell trait do not suffer from the disease, individuals with one copy of HbS and one copy of a different beta-globin gene variant such as HbC or Hb beta-thalassemia have a less severe form of the disease.

Although the disease is most frequently found in sub-Saharan Africa, it is also found in some parts of Sicily, Greece, southern Turkey, and India, all of which have areas in which malaria is endemic.

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