How to Cite
Abstract
Objective: To determine the frequency of glucose-6-phosphate dehydrogenase deficiency among neonates presenting with jaundice.
Methods: It was a Descriptive cross-sectional study using non-probability consecutive sampling conducted in the Department of Pediatrics, Saidu Group of Teaching Hospitals, Saidu Medical College, Swat, Pakistan, from 22nd July 2023 to 22nd January 2024. A total of 130 neonates aged 1–28 days with clinical jaundice were enrolled. Baseline demographic and clinical data were collected. Laboratory evaluation included serum bilirubin, hemoglobin, reticulocyte count, and glucose-6-phosphate dehydrogenase activity by decolorization test. A decolorization time exceeding 60 minutes was considered diagnostic for enzyme deficiency.
Results: Of the 130 neonates, 70% were aged 1–14 days, and 30% were 15–28 days. Term neonates constituted 68%, while 32% were preterm. Male-to-female ratio was 1.3:1 (58% vs. 42%). Glucose-6-phosphate dehydrogenase deficiency was detected in 10% of neonates with significantly higher frequency in males (16%) compared to females (2%) (p=0.0077).
Conclusion: Glucose-6-phosphate dehydrogenase deficiency was observed in 10% of neonates with jaundice, with a marked male predominance. Early screening is essential to prevent complications such as severe hyperbilirubinemia and kernicterus in high-risk populations.
Keywords: Anemia, Hemolytic; Glucose-6-Phosphate Dehydrogenase Deficiency; Hyperbilirubinemia, Neonatal; Infant, Newborn; Jaundice.
References
Lee HY, Ithnin A, Azma RZ, Othman A, Salvador A, Cheah FC. Glucose-6-phosphate dehydrogenase deficiency and neonatal hyperbilirubinemia: insights on pathophysiology, diagnosis, and gene variants in disease heterogeneity. Front Pediatr. 2022;10(875877):1-13. https://doi.org/10.3389/fped.2022.875877
Mei H, Dong X, Wu B, Wang H, Lu Y, Hu L, et al. Clinical and genetic etiologies of neonatal unconjugated hyperbilirubinemia in the China neonatal genomes project. J Pediatr. 2022;243:53-60.e9. https://doi.org/10.1016/j.jpeds.2021.12.038
He Y, Zhang Y, Chen X, Wang Q, Ling L, Xu Y. Glucose-6-phosphate dehydrogenase deficiency in the Han Chinese population: molecular characterization and genotype-phenotype association throughout an activity distribution. Sci Rep. 2020;10(1):1-10. https://doi.org/10.1038/s41598-020-74200-y
Tang BL. Neuroprotection by glucose-6-phosphate dehydrogenase and the pentose phosphate pathway. J Cell Biochem. 2019;120(9):14285-95. https://doi.org/10.1002/jcb.28702
D’Alessandro A, Fu X, Kanias T, Reisz JA, Culp-Hill R, Guo Y, et al. Donor sex, age and ethnicity impact stored red blood cell antioxidant metabolism through mechanisms in part explained by glucose 6-phosphate dehydrogenase levels and activity. Haematologica. 2021;106(5):1290-300. https://doi.org/10.3324/haematol.2020.247346
Vela-Amieva M, Alcántara-Ortigoza MA, González-del Angel A, Belmont-Martínez L, López-Candiani C, Ibarra-González I. Genetic spectrum and clinical early natural history of glucose-6-phosphate dehydrogenase deficiency in Mexican children detected through newborn screening. Orphanet J Rare Dis. 2021;16(1):1-11. https://doi.org/10.1186/s13023-021-01693-9
Anderle A, Bancone G, Domingo GJ, Gerth-Guyette E, Pal S, Satyagraha AW. Point-of-care testing for G6PD deficiency: opportunities for screening. Int J Neonatal Screen. 2018;4(34):1-4. https://doi.org/10.3390/ijns4040034
Awasthi DK, Awasthi G. G6PD deficiency in Dehradun population. Int Res J Innov Eng Technol. 2022;6(4):54-8. https://doi.org/10.47001/IRJIET/2022.604009
Yang H, Lin F, Chen ZK, Zhang L, Xu JX, Wu YH, et al. UGT1A1 mutation association with increased bilirubin levels and severity of unconjugated hyperbilirubinemia in ABO incompatible newborns of China. BMC Pediatr. 2021;21(1):1-8. https://doi.org/10.1186/s12887-021-02726-9
Khan MS, Ullah A, ul Haq S, Shoaib M. Frequency of G6PD Deficiency in General Population at District Bannu, Khyber Pakhtunkhwa, Pakistan. Journal of Saidu Medical College, Swat. 2020; 10(1):48-4. https://doi.org/10.52206/jsmc.2020.10.1.%25p
Shahzeen AA, Kayani A, Zubair A, Noreen R, Fatima S. Glucose-6-phosphate dehydrogenase (G6PD) deficiency in neonates presenting with indirect hyperbilirubinemia in neonatal intensive care unit of tertiary health care center of Pakistan: is the trend changing with change in consanguineous marriages? Fortune J Health Sci. 2022;5(3):510-6. https://doi.org/10.26502/fjhs.077
Kasemy ZA, Bahbah WA, El Hefnawy SM, Alkalash SH. Prevalence of and mothers’ knowledge, attitude and practice towards glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice: a cross-sectional study. BMJ Open. 2020;10(2):1-9. https://doi.org/10.1136/bmjopen-2019-034079
Yi-Kang Y, Chun-Fan L, Fen L, Zi-Kai C, Yu-Wei L, Yu-Chan H, et al. Etiology analysis and G6PD deficiency for term infants with jaundice in Yangjiang of western Guangdong. Front Pediatr. 2023;11(1201940):1-7. https://doi.org/10.3389/fped.2023.1201940
Akhter N, Habiba U, Mazari N, Fatima S, Asif M, Batool Y. Glucose-6-phosphate dehydrogenase deficiency in neonatal hyperbilirubinemia and its relationship with severity of hyperbilirubinemia. Isra Med J. 2019;11:237-41.
Xu JX, Lin F, Chen ZK, Luo ZY, Zhan XF, Wu JR, et al. Co-inheritance of G6PD deficiency and 211 G to A variation of UGT1A1 in neonates with hyperbilirubinemia in eastern Guangdong. BMC Pediatr. 2021 Dec 11;21(1):1-8. https://doi.org/10.1186/s12887-021-03010-6.
Elhalik M, El-Atawi K, Dash S, et al. Incidence of G6PD deficiency among neonates with hyperbilirubinemia requiring phototherapy at postnatal wards of a tertiary care perinatal center, Dubai, UAE: A longitudinal cross-sectional study. J Pediatr Neonatal Care. 2020;10(5):134-7. https://doi.org/10.15406/jpnc.2020.10.00425
Hamali HA. Glucose-6-phosphate dehydrogenase deficiency: An overview of the prevalence and genetic variants in Saudi Arabia. Hemoglobin.2021;45(5):287-95. https://doi.org/10.1080/03630269.2022.2034644.
Zhou J, Yang C, Zhu W, Chen S, Zeng Y, Wang J, et al. Identification of genetic risk factors for neonatal hyperbilirubinemia in Fujian province, southeastern China: a case-control study. Biomed Res Int. 2018;2018(7803175):1-8. https://doi.org/10.1155/2018/7803175
Tang F, Huang YL, Jiang X, Jia XF, Li B, Feng Y, et al. Evaluations of newborn screening program performance and enzymatic diagnosis of glucose-6-phosphate dehydrogenase deficiency in Guangzhou. Zhonghua Er Ke Za Zhi. 2018;56(5):359-63. https://doi.org/10.3760/cma.j.issn.0578-1310.2018.05.010
Kassahun W, Tunta T, Abera A, Shiferaw M. Glucose-6-phosphate dehydrogenase deficiency among neonates with jaundice in Africa: systematic review and meta-analysis. Heliyon. 2023;9(7):1-9. https://doi.org/10.1016/j.heliyon.2023.e18437
Vidavalur R, Ezeaka VC, Bhutani VK. Estimated disease burden and lost economic productivity due to glucose-6-phosphate dehydrogenase deficiency in Nigerian newborns. Semin Perinatol. 2021;45(1):151360. https://doi.org/10.1016/j.semperi.2020.151360
Kaplan M, Wong RJ, Stevenson DK. Hemolysis and glucose-6-phosphate dehydrogenase deficiency-related neonatal hyperbilirubinemia. Neonatology. 2018;114(3):223-5. https://doi.org/10.1159/000489820.
Eissa AA, Haji BA, Al-Doski AA. G6PD deficiency prevalence as a cause of neonatal jaundice in a neonatal ward in Dohuk, Iraq. Am J Perinatol. 2021;38(6):575-80. https://doi.org/10.1055/s-0039-1700854.
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
Copyright (c) 2025 Noor Ul Hadi, Sidra Tul Muntaha, Muhammad Hafeez, Rafiq Ahmad, Farhan Hassan, Mian Mansoor Afzal