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Frontiers of Medicine doi: 10.1007/s11684-022-0962-x

Facile discovery of red blood cell deformation and compromised membrane/skeleton assembly in Prader–Willi syndrome

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Prader–Willi syndrome (PWS) is a rare congenital disease with genetic alterations in chromosome 15. Although genetic disorders and DNA methylation abnormalities involved in PWS have been investigated to a significant degree, other anomalies such as those in erythrocytes may occur and these have not been clearly elucidated. In the present study, we uncovered slight anemia in children with PWS that was associated with increased red blood cell (RBC) distribution width (RDW) and contrarily reduced hematocrit (HCT) values. Intriguingly, the increased ratio in RDW to HCT allowed sufficient differentiation between the PWS patients from the healthy controls and, importantly, with individuals exhibiting conventional obesity. Further morphologic examinations revealed a significant deformity in erythrocytes and mild hemolysis in PWS patients. Comprehensive mechanistic investigations unveiled compromised membrane skeletal assembly and membrane lipid composition, and revealed a reduced F-actin/G-actin ratio in PWS patients. We ascribed these phenotypic changes in erythrocytes to the observed genetic defects, including DNA methylation abnormalities. Our collective data allowed us to uncover RBC deformation in children with PWS, and this may constitute an auxiliary indicator of PWS in early childhood.

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