Article
Pyruvate kinase deficiency modifies sickle hemoglobin carrier and sickle cell disease phenotypes in mice.
JCI insight - 23 Feb 2026
Wang Xunde, Smith Meghann, Kamimura Sayuri, Li Quan, Shah Niharika, Quezado Martha, Almeida Luis Ef, Vogel Sebastian, Tegegn Mickias B, Sun Kevin Y, Villasmil Rafael, Liu Chengyu, Eaton William A, Thein Swee Lay, Quezado Zenaide Mn
Abstract excerpt
Growing evidence indicates that PKLR, the gene for pyruvate kinase (PK), is a genetic modifier of the sickle cell phenotype. Coinheritance of specific PKLR variants is associated with increased pain-related hospitalization and can trigger sickle cell disease (SCD) phenotypes in asymptomatic carriers. PK deficiency disrupts RBC glycolysis, leading to ATP deficits and accumulation of 2,3-diphosphoglycerate, which...
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