Wednesday, March 14, 2018
How One Child's Sickle Cell Mutation Helped Protect the World from Malaria
Recently a study conducted by the Center of Research on Genomics and Global Health, a part of the National Institutes of Health looked into how humans obtained sickle cell anemia. This genetic mutation alters ones hemoglobin which is the molecule on the red blood cell that moves oxygen throughout the body. Roughly 7,300 years ago in Africa, scientists have found that if a person had two copies of a mutated hemoglobin gene led to the sickle cell shape attributed to the name, sickle cell anemia. However, researchers were left in a, "genetic mystery," onto why this mutation never died off. It was discovered that if a person had one mutated hemoglobin gene this allowed that individual to survive the mosquito transmitted disease, malaria, a wide spread disease in Africa at the time. Essentially, if an individual had only one copy of this allele they were safe however, if one was to have two copies of this allele, their blood cells would be defective and clog the blood vessels in the body. This discovery led researchers to believe that the development of sickle cell anemia is linked to human survival of malaria.
Original Study: http://www.cell.com/ajhg/fulltext/S0002-9297(18)30048-X