Sunday, April 15, 2018

The Mutation that Helped

            Before the Sahara was known as a desert, a child was born with what is now known as sickle cell. The child’s hemoglobin was altered. The child survived this mutation and lived on to have a family and pass down his mutated gene to future generations. This mutation became a genetic advantage. Carrying this gene protected the body from the time’s biggest threat on humans, malaria. The mutation was survived because it was from only one parent, not both. The problem with this mutation, although it protected against malaria, was that if two affected parents both passed their mutation onto their child, the child would not be able to produce normal hemoglobin. The child’s red blood cells would become defected and clog their blood vessels. This is now known as sickle cell anemia. Symptoms of sickle cell are extreme pain, difficulty breathing, kidney failure, and sometimes strokes. 
            In earlier years, affected sickle cell anemia children would die by the age of 5. Although death is a detrimental side effect, the sickle cell mutation gene was still passed on and thought to be a life ticket because of its protection against malaria. In most poor countries, sickle cell anemia is the cause of death to many children and at a young age. The average life span of someone affected with sickle cell anemia in the United States is 40 years. Research was completed to examine sickle cell anemia cells. Dr. Rotimi and Dr. Shriner examined the genomes of 2,932 people from around the world. 156 of these people carried the mutation. It was found that all of these mutations stemmed from one person who lived 7,300 years ago. The studies completed are now something hoped to inspire future treatments.  


How One Child’s Sickle Cell Mutation Helped Protect the World From Malaria”

http://www.cell.com/ajhg/fulltext/S0002-9297(18)30048-X


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