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

March 13, 2018 - 17:25 -- Ingeborg van Schayk

8 March 2018, Carl Zimmer (New York Times)

The genetic mutation arose 7,300 years ago in just one person in West Africa, scientists reported on Thursday. Its advantage: a shield against rampant malaria.

Thousands of years ago, a special child was born in the Sahara. At the time, this was not a desert; it was a green belt of savannas, woodlands, lakes and rivers. Bands of hunter-gatherers thrived there, catching fish and spearing hippos.

A genetic mutation had altered the child’s hemoglobin, the molecule in red blood cells that ferries oxygen through the body. It was not harmful; there are two copies of every gene, and the child’s other hemoglobin gene was normal. The child survived, had a family and passed down the mutation to future generations.

As the greenery turned to desert, the descendants of the hunter-gatherers became cattle-herders and farmers, and moved to other parts of Africa. The mutation endured over generations, and for good reason. People who carried one mutated gene were protected against one of the biggest threats to humans in the region: malaria.

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Comments

Submitted by Philip JAJOSKY on

Yes -- Malaria-resistant red blood cell genetic variants are a blessing of human evolution. These special variants can now be administered to patients with life-threatening malaria -- who are mostly children -- via T-REX of special RBC variants. That is, special red blood cell exchange transfusions. Of note, there are several malaria-protective variants, in addition to sickle-cell-trait red blood cells. For example, there has NEVER been a case of cerebral malaria among malaria patients who have Southeast Asian ovalocytes. If interested, message me, ask questions, and follow Malaria World's "T-REX" weblog. Thank you for directing attention to an important cell-therapy opportunity: malaria protective RBC genetic variants.

Philip Jajosky, MD, MPH