A gain of function variant in PIEZO1 (E756del) and sickle cell disease.

Helen Rooks,John Brewin,Kate Gardner,Subarna Chakravorty,Stephan Menzel,Anke Hannemann,John Gibson,David C Rees

HAEMATOLOGICA（2019）

引用 20|浏览35

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摘要

The novel PIEZO1 E756del variant was recently identified in about 30% of Africans, and associated with significant red cell dehydration and protection against malaria.[1][1] Erythrocytes from people with the E756del variant were found to have reduced infection by Plasmodium falciparum in in vitro

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Hemoglobinopathies,PIEZO1,Red Cells,sickle cell disease

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