Conflict of interest: nothing to report.
Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis†
Article first published online: 14 OCT 2010
Copyright © 2011 Wiley-Liss, Inc.
Pediatric Blood & Cancer
Volume 56, Issue 5, pages 840–842, May 2011
How to Cite
Mizukawa, B., George, A., Pushkaran, S., Weckbach, L., Kalinyak, K., Heubi, J. E. and Kalfa, T. A. (2011), Cooperating G6PD mutations associated with severe neonatal hyperbilirubinemia and cholestasis. Pediatr. Blood Cancer, 56: 840–842. doi: 10.1002/pbc.22744
- Issue published online: 2 MAR 2011
- Article first published online: 14 OCT 2010
- Manuscript Accepted: 15 JUN 2010
- Manuscript Received: 27 APR 2010
- U.S. NIH. Grant Numbers: NHLBI K08, HL088126
- G6PD deficiency;
- neonatal jaundice
We report a novel glucose-6-phosphate dehydrogenase (G6PD) mutation, which we propose to name G6PD Cincinnati (c.1037A > T, p.N346I), found in combination with G6PD Gastonia (c.637G > T, p.V213L) in an infant who presented with neonatal cholestasis. The G6PD Cincinnati mutation results in a non-conservative amino acid substitution at the tetramer interface disturbing its formation, as seen by native gel electrophoresis and immunoblotting. G6PD Gastonia disrupts dimerization of the enzyme and by itself causes chronic non-spherocytic hemolytic anemia. The G6PD Cincinnati mutation may have aggravated the clinical picture of G6PD Gastonia with the result of severe perinatal hemolysis causing cholestasis and associated liver injury. Pediatr Blood Cancer 2011;56:840–842. © 2011 Wiley-Liss, Inc.