The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Grace, R. F.; Bianchi, P.; van Beers, E. J.; Eber, S. W.; Glader, B.; Yaish, H. M.; Despotovic, J. M.; Rothman, J. A.; Sharma, M.; McNaull, M. M.; Fermo, E.; Lezon-Geyda, K.; Morton, D. H.; Neufeld, E. J.; Chonat, S.; Kollmar, N.; Knoll, C. M.; Kuo, K.; Kwiatkowski, J. L.; Pospisilova, D.; Pastore, Y. D.; Thompson, A. A.; Newburger, P. E.; Ravindranath, Y.; Wang, W. C.; Wlodarski, M. W.; Wang, H.; Holzhauer, S.; Breakey, V. R.; Kunz, J.; Sheth, S.; Rose, M. J.; Bradeen, H. A.; Neu, N.; Guo, D.; Al-Sayegh, H.; London, W. B.; Gallagher, P. G.; Zanella, A.; Barcellini, W.

Blood. 2018 Mar 20


An international, multicenter registry was established to collect retrospective and prospective clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic defect causing congenital non-spherocytic hemolytic anemia. Medical history and laboratory and radiologic data were retrospectively collected at enrollment in 254 patients with molecularly confirmed PK deficiency. Perinatal complications were common, including anemia requiring transfusions, hyperbilirubinemia, hydrops, and prematurity. Nearly all newborns were treated with phototherapy (93%) with many treated with exchange transfusions (46%). Young children,

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