Abstract
We report a novel glucose-6-phosphate dehydrogenase (G6PD) variant (c.1375C>G) discovered in a 3-day-old Hispanic male child from Salt Lake City, UT, USA. This newborn presented with severe hyperbilirubinemia (29.8 mg/dL or 510 μmol/L) and marked hemolysis evidenced by elevated end-tidal carbon monoxide concentration (5.9 ppm, normal <1.7 ppm). Despite a very low prevalence of G6PD deficiency in Hispanic populations, we pursued testing for this condition and found he had low erythrocyte G6PD enzyme activity (2.8 U/g Hb, normal 9.9–16.6 U/g Hb) and a novel G6PD variant. His mother was heterozygous for this same variant, and she had a moderate decrease in G6PD enzyme activity (7.1 U/g Hb). On the basis of these findings, we propose this variant as a novel pathogenic mutation.
References
1.
Christensen
RD
, Lambert
DK
, Henry
E
, Eggert
LD
, Yaish
HM
, Reading
NS
, et al Unexplained extreme hyperbilirubinemia among neonates in a multihospital healthcare system
. Blood Cells Mol Dis
. 2013 Feb
;50
(2
):105
–9
. 2.
Nkhoma
ET
, Poole
C
, Vannappagari
V
, Hall
SA
, Beutler
E
. The global prevalence of glucose-6-phosphate dehydrogenase deficiency: a systematic review and meta-analysis
. Blood Cells Mol Dis
. 2009 Jun
;42
(3
):267
–78
. 3.
National Library of Medicine (US)
. Genetics Home Reference
[Internet]. [cited 2020 Jun 30]. Available from:
https://ghr.nlm.nih.gov/.4.
Yoshida
A
, Beutler
E
, Motulsky
AG
. Human glucose-6-phosphate dehydrogenase variants
. Bull World Health Organ
. 1971
;45
(2
):243
–53
.5.
Watchko
JF
, Kaplan
M
, Stark
AR
, Stevenson
DK
, Bhutani
VK
. Should we screen newborns for glucose-6-phosphate dehydrogenase deficiency in the United States?
J Perinatol
. 2013 Jul
;33
(7
):499
–504
. 6.
Rice
L
, Alfrey
CP
. The negative regulation of red cell mass by neocytolysis: physiologic and pathophysiologic manifestations
. Cell Physiol Biochem
. 2005
;15
(6
):245
–50
. 7.
Johnson
L
, Bhutani
VK
, Karp
K
, Sivieri
EM
, Shapiro
SM
. Clinical report from the pilot USA Kernicterus Registry (1992 to 2004)
. J Perinatol
. 2009 Feb
;29
(S1
):S25
–45
. 8.
Monteiro
WM
, Val
FF
, Siqueira
AM
, Franca
GP
, Sampaio
VS
, Melo
GC
, et al G6PD deficiency in Latin America: systematic review on prevalence and variants
. Mem Inst Oswaldo Cruz
. 2014 Aug
;109
(5
):553
–68
. 9.
Cantú-Reyna
C
, Santos-Guzmán
J
, Cruz-Camino
H
, Vazquez Cantu
DL
, Gómez-Gutiérrez
R
, Góngora-Cortéz
JJ
, et al Glucose-6-phosphate dehydrogenase deficiency incidence in a hispanic population
. J Neonatal Perinatal Med
. 2019
;12
(2
):203
–7
. 10.
Calabro
V
, Luzzatto
L
. Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis
. Vol. 10
.11.
Fu
C
, Luo
S
, Li
Q
, Xie
B
, Yang
Q
, Geng
G
, et al Newborn screening of glucose-6-phosphate dehydrogenase deficiency in Guangxi, China: determination of optimal cutoff value to identify heterozygous female neonates
. Sci Rep
. 2018 Dec
;8
(1
):833
. 12.
Kaplan
M
, Wong
RJ
, Stevenson
DK
. Hemolysis and glucose-6-phosphate dehydrogenase deficiency-related neonatal hyperbilirubinemia
. Neonatology
. 2018
;114
(3
):223
–5
. © 2020 S. Karger AG, Basel
2020
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.
