Clinical and Epidemiological Evaluation of Acute G6PD Deficiency-Associated Hemolysis: A Two-Year Cross-Sectional Study

Document Type : Original Article(s)

Authors

1 Associate Professor, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

2 Medical Student, Department of Pediatrics, Isfahan University of Medical Sciences, Isfahan, Iran

3 PhD, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

4 Assistant Professor, Department of Pediatrics, Child Growth and Development Research Center, Research Institute for Primordial Prevention of Non-communicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran

10.48305/jims.v43.i838.1455

Abstract

Background: Glucose-6-phosphate dehydrogenase (G6PD) deficiency is one of the most common enzymopathies and an important cause of hemolysis and neonatal jaundice. In this regard, the study aimed to determine the risk factors and clinical manifestations of patients with G6PD deficiency hospitalized at Amin Hospital, Isfahan, in 2018 and 2019.
Methods: In this retrospective cross-sectional study, 73 children (1 to 15 years old) with a diagnosis of G6PD deficiency and evidence of acute hemolysis were examined. Demographic and clinical data (such as jaundice, pallor, dark urine, lethargy, history of fava bean consumption, stimulant drugs, and infection) and laboratory data (including hemoglobin levels, serum total bilirubin, reticulocyte count, and direct Coombs test results) were extracted from the patients' medical records. The need for blood exchange was also recorded. Statistical analysis was performed using Mann-Whitney and Wilcoxon tests.
Findings: Of the 73 patients studied, 59 (80.8%) were male and 14 (19.2%) were female. The mean (±SD) total bilirubin level was 11.14 ± 1.8 mg/dL and the mean hemoglobin was 10.14 ± 0.53 g/dL. In total, 21 patients (28.8%) required blood exchange. Comparison of hemolysis parameters between 2018 and 2019 indicated a statistically significant difference in hemolysis rate (based on reticulocyte count) (P < 0.0001).
Conclusion: Given the significant increase in the hemolysis rate and the high prevalence of this deficiency, early diagnosis and screening for G6PD deficiency, regardless of gender, and careful monitoring of affected children can play a major role in preventing severe complications such as acute hemolysis and reducing the need for costly interventions like blood exchange.

Highlights

Motahar Heidari‐Beni: Google Scholar 

Mohammad Ali Pourmirzaiee: Google Scholar 

Keywords

Main Subjects


  1. Ravikumar N, Greenfield G. Glucose-6-phosphate dehydrogenase deficiency: a review. International Journal of Medical Students 2020; 8(3): 281-7.
  2. Richardson SR, O'Malley GF. Glucose-6-Phosphate Dehydrogenase Deficiency. Treasure Island (FL): StatPearls Publishing; 2025.
  3. Luzzatto L, Nannelli C, Notaro R. Glucose-6-phosphate dehydrogenase deficiency. Hematol Oncol Clin North Am 2016; 30(2): 373-93.
  4. Elella SA, Tawfik M, Barseem N, Moustafa W. Prevalence of glucose-6-phosphate dehydrogenase deficiency in neonates in Egypt. Ann Saudi Med 2018; 37(5): 362-5.
  5. Cunningham AD, Hwang S, Mochly-Rosen D. Glucose-6-phosphate dehydrogenase deficiency and the need for a novel treatment to prevent kernicterus. Clin Perinatol 2016; 43(2): 341-54.
  6. Boonyuen U, Chamchoy K, Swangsri T, Junkree T, Day NP, White NJ, et al. A trade off between catalytic activity and protein stability determines the clinical manifestations of glucose-6-phosphate dehydrogenase (G6PD) deficiency. Int J Biol Macromol 2018; 104(Pt A): 145-56.
  7. Hagag AA, Badraia IM, Elfarargy MS, Abd Elmageed MM, Abo-Ali EA. Study of glucose-6-phosphate dehydrogenase deficiency: 5 years retrospective Egyptian study. Endocr Metab Immune Disord Drug Targets 2018; 18(2): 155-62.
  8. Pavlovic Markovic A, Stojkovic Lalosevic M, Mijac DD, Milovanovic T, Dragasevic S, Sokic Milutinovic A, et al. Jaundice as a diagnostic and therapeutic problem: a general practitioner’s approach. Dig Dis 2022; 40(3): 362-9.
  9. Sinha R, Sachendra B, Syed VS, Nair L, John BM. To study the prevalence of glucose 6 phosphate dehydrogenase (G6PD) deficiency in neonates with neonatal hyperbilirubinemia and to compare the course of the neonatal jaundice in deficient versus non deficient neonates. Journal of Clinical Neonatology. 2017; 6(2): 71-4.
  10. Oppenheim A, Jury CL, Rund D, Vulliamy TJ, Luzzatto L. G6PD Mediterranean accounts for the high prevalence of G6PD deficiency in Kurdish Jews. Hum Genet 1993; 91(3): 293-4.
  11. White J, Byrne M, Richards R, Buchanan T, Katsoulis E, Weerasingh K. Red cell genetic abnormalities in Peninsular Arabs: sickle haemoglobin, G6PD deficiency, and alpha and beta thalassaemia. J Med Genet 1986; 23(3): 245-51.
  12. White JM, Christie BS, Nam D, Daar S, Higgs DR. Frequency and clinical significance of erythrocyte genetic abnormalities in Omanis. J Med Genet 1993; 30(5): 396-400.
  13. Samuel AP, Saha N. Distribution of red cell G6PD and 6PGD phenotypes in Saudi Arabia. Trop Geogr Med 1986; 38(3): 287-91.
  14. Lai YK, Lai NM, Lee SWH. Glucose-6-phosphate dehydrogenase deficiency and risk of diabetes: a systematic review and meta-analysis. Ann Hematol 2018; 96(5): 839-45.
  15. Benchimol M, Madeira LB, de Oliveira-Souza R. Late‐Life Presentation of Unsuspected G6PD Deficiency. Case Rep Crit Care 2018; 2018: 8198565.
  16. Glucose-6-phosphate dehydrogenase deficiency. WHO Working Group. Bull World Health Organ 1989; 67(6): 601-11.
  17. 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; 42(3): 267-78.
  18. Mallouh AA, Imseeh G, Abu-Osba YK, Hamdan JA. Screening for glucose-6-phosphate dehydrogenase deficiency can prevent severe neonatal jaundice. Ann Trop Paediatr 1992; 12(4): 391-5.
  19. Verma M, Singla D, Crowell S. G6PD deficiency in neonates: a prospective study. Indian J Pediatr 1990; 57(3): 385-8.
  20. Cappellini MD, Fiorelli G. Glucose-6-phosphate dehydrogenase deficiency. Lancet 2008; 371(9606): 64-74.
  21. Belfield KD, Tichy EM. Review and drug therapy implications of glucose-6-phosphate dehydrogenase deficiency. Am J Health Syst Pharm 2018; 75(3): 97-104.
  22. GBD 2015 Mortality and Causes of Death Collaborators. Global, regional, and national life expectancy, all-cause mortality, and cause-specific mortality for 249 causes of death, 1980-2015: a systematic analysis for the Global Burden of Disease Study 2015. Lancet 2016; 388(10053): 1459-544.
  23. Al Arrayed S. Frequency of G6PD deficiency among Bahraini students: a ten years' study. Bah Med Bull 2010; 32(1): 18-21.
  24. Ainoon O, Joyce J, Boo NY, Cheong SK, Zainal ZA, Hamidah NH. Glucose-6-phosphate dehydrogenase (G6PD) variants in Malaysian Chinese. Hum Mutat 1999; 14(4): 352.
  25. Kaplan M, Abramov A. Neonatal hyperbilirubinemia associated with glucose-6-phosphate dehydrogenase deficiency in Sephardic-Jewish neonates: incidence, severity, and the effect of phototherapy. Pediatrics 1992; 90(3): 401-5.
  26. La Vieille S, Lefebvre DE, Khalid AF, Decan MR, Godefroy S. Dietary restrictions for people with glucose-6-phosphate dehydrogenase deficiency. Nutr Rev 2019; 77(2): 96-106.
  27. Hon A, Balakrishnan S, Ahmad Z. Hyperbilirubinaemia and erythrocytic glucose 6 phosphate dehydrogenase deficiency in Malaysian children. Med J Malaysia 1989; 44(1): 30-4.
  28. Iranpour R, Akbar MR, Haghshenas I. Glucose-6-phosphate dehydrogenase deficiency in neonates. Indian J Pediatr 2003; 70(11): 855-7.
  29. Moiz B, Nasir A, Khan SA, Kherani SA, Qadir M. Neonatal hyperbilirubinemia in infants with G6PD c.563C > T Variant. BMC Pediatr 2012; 12: 126.
  30. Koosha A, Rafizadeh B. Evaluation of neonatal indirect hyperbilirubinaemia at Zanjan Province of Iran in 2001-2003: prevalence of glucose-6-phosphate dehydrogenase deficiency. Singapore Med J 2007; 48(5): 424-8.
  31. Atay E, Bozaykut A, Ipek IO. Glucose-6-phosphate dehydrogenase deficiency in neonatal indirect hyperbilirubinemia. J Trop Pediatr 2006; 52(1): 56-8.
  32. Kilicdag H, Gökmen Z, Ozkiraz S, Gulcan H, Tarcan A. Is it accurate to separate glucose-6-phosphate dehydrogenase activity in neonatal hyperbilirubinemia as deficient and normal? Pediatr Neonatol 2014; 55(3): 202-7.
  33. ‎World Health Organization. Working group glucose-6-phosphate dehydrogenase deficiency. Bull World Health Organ 1989; 67(6): 601-11.