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Article

Genetic variants of PKLR are associated with acute pain in sickle cell disease

10 Mar 2022

Abstract excerpt

Acute pain, the most prominent complication of sickle cell disease (SCD), results from vaso-occlusion triggered by sickling of deoxygenated red blood cells (RBCs). Concentration of 2,3-diphosphoglycerate (2,3-DPG) in RBCs promotes deoxygenation by preferentially binding to the low-affinity T conformation of HbS. 2,3-DPG is an intermediate substrate in the glycolytic pathway in which pyruvate kinase (gene PKLR,...

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PMID: 35271708
DOI: 10.1182/bloodadvances.2021006668

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