Sickle Hemoglobin and Sickle Cell Disease

To inherit the sickle mutation from just one parent confers meaningful protection against the most serious form of malaria, but to inherit two (or one in combination with another β globin abnormality) produces sickle cell disease, a profoundly serious, morbid, painful, life-shortening disorder. Because one mutation is so valuable in preventing malaria, its frequency where the most virulent forms of malaria are prevalent is high, meaning that sickle cell disease is also prevalent. The timeline of historical discoveries into the cause of the disease, the clinical manifestations and complications, and treatments including gene therapies are discussed.